An autosomal recessive form of uncertain etiology (OMIM 240200) has also been identified.
[emedicine.medscape.com]
Adrenal hypoplasia congenita, autosomal recessive form (OMIM 240200 ), is the "miniature adult" type of adrenal hypoplasia; the adrenal cortex is composed of a small amount
[ncbi.nlm.nih.gov]
Adrenal hypoplasia congenita is a rare inherited disease of adrenal cortex that can occur in two distinct forms: the autosomal recessive miniature adult form and the X-linked
[doi.org]
DSMA here refers to the autosomal recessive forms of HMN. See also H00455 Spinal muscular atrophy (SMA).
[genome.jp]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
autosomal recessive forms, and early adult-onset autosomal recessive forms.
[mayomedicallaboratories.com]
There are 4 hereditary forms: The autosomal recessive forms tend to be more common, and one of them causes potentially lethal cardiovascular, respiratory, and gastrointestinal
[msdmanuals.com]
There are 4 hereditary forms: 2 autosomal recessive The autosomal recessive forms tend to be more common, and one of them causes potentially lethal cardiovascular, respiratory
[merckmanuals.com]
Genetic forms of cutis laxa include at least three forms of recessive disease, an X-linked form also termed occipital horn syndrome and an autosomal dominant form.
[ncbi.nlm.nih.gov]
At least 50% of the reported cases are hereditary and among these, autosomal recessive deafness (DFNB) is the most frequent and severe form of deafness.
[cags.org.ae]
UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 61: A form of non-syndromic sensorineural hearing loss.
[malacards.org]
Abstract More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits.
[ncbi.nlm.nih.gov]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
LGMD2I is an autosomal recessive form of limb-girdle muscular dystrophy (LGMD).
[lgmd2i.com]
Gene products have been identified for five genes responsible for autosomal recessive forms of the disorder.
[ncbi.nlm.nih.gov]
[…] dystrophy Etymology: AS, lim, limb, gyrdel a form of muscular dystrophy transmitted as an autosomal-recessive trait.
[medical-dictionary.thefreedictionary.com]
Overview Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of
[checkorphan.org]
Overview An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene.
[checkorphan.org]
Sixteen loci have been so far identified, six autosomal dominant and ten autosomal recessive.
[beta-sarcoglicanopathy.org]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
[…] dystrophy Etymology: AS, lim, limb, gyrdel a form of muscular dystrophy transmitted as an autosomal-recessive trait.
[medical-dictionary.thefreedictionary.com]
At least 5 forms of autosomal dominant limb-girdle MD (known as type 1) and 17 forms of autosomal recessive limb-girdle MD (known as type 2) have been identified.
[tellmegen.com]
Limb girdle muscular dystrophy 2B (LGMD2B) is another autosomal recessive form of muscular dystrophy resulting from mutation of the dysferlin gene (DYSF TGFβ-signaling in
[paperity.org]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
LGMD2I is an autosomal recessive form of limb-girdle muscular dystrophy (LGMD).
[lgmd2i.com]
Overview Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of
[checkorphan.org]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
The autosomal recessive forms (LGMD2) constitute a genetically heterogeneous group with LGMD2A mapping to chromosome 15q15.1-q21.1.
[ncbi.nlm.nih.gov]
Calpain3 is a calcium-dependent intracellular protease involved in an autosomal recessive form of muscular dystrophy known as limb-girdle muscular dystrophy type 2A.
[uniprot.org]
At least 5 forms of autosomal dominant limb-girdle MD (known as type 1) and 17 forms of autosomal recessive limb-girdle MD (known as type 2) have been identified.
[tellmegen.com]
Limb girdle muscular dystrophy 2B (LGMD2B) is an autosomal recessive form of limb girdle muscular dystrophy (LGMD).
[musculardystrophyuk.org]
[…] dystrophy Etymology: AS, lim, limb, gyrdel a form of muscular dystrophy transmitted as an autosomal-recessive trait.
[medical-dictionary.thefreedictionary.com]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
LGMD2I is an autosomal recessive form of limb-girdle muscular dystrophy (LGMD).
[lgmd2i.com]
Thity-one loci have been identified so far, eight autosomal dominant and 23 autosomal recessive.
[ncbi.nlm.nih.gov]
Autosomal recessive LGMD The autosomal recessive forms (LGMD2) are much more common, having a cumulative prevalence of 1:15,000 (2) with some differences among countries,
[archive.org]
]: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging.
[genecards.org]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
[ncbi.nlm.nih.gov]
Reference work entry DOI: https://doi.org/ 10.1007/978-3-540-29676-8_2615 Synonyms Telethoninopathy Definition and Characteristics Autosomal recessive, relatively mild form
[link.springer.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
[…] dominant or autosomal recessive.
[familydiagnosis.com]
recessive form of muscular dystrophy mainly affecting the proximal muscles and resulting in difficulty walking.
[mendelian.co]
The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form.
[unboundmedicine.com]
The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable
[ncbi.nlm.nih.gov]
There are 4 hereditary forms: Autosomal dominant X-linked recessive 2 autosomal recessive The autosomal recessive forms tend to be more common, and one of them causes potentially
[merckmanuals.com]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
recessive limb-girdle muscular dystrophy (LGMD2). ( 10735275 ) Duggan D.J....Hoffman E.P. 1997 18 The seventh form of autosomal recessive limb-girdle muscular dystrophy is
[malacards.org]
LGMDs are divided into 8 autosomal-dominant (LGMD1) 1 and 25 autosomal-recessive (LGMD2) forms ( omim.org/phenotypicSeries/PS253600 ).
[ng.neurology.org]
Overview An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene.
[checkorphan.org]
[…] dominant form Congenital myotonia, autosomal recessive form Conotruncal heart malformations Cornelia de Lange syndrome 1 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Coxa
[pentacorelab.hu]
Overview Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of
[checkorphan.org]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc.
[mda.org]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
LGMD2I is an autosomal recessive form of limb-girdle muscular dystrophy (LGMD).
[lgmd2i.com]
[…] muscular dystrophy an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness
[seslisozluk.net]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
[icd10data.com]
Affiliated tissues include bone and brain, and related phenotypes are global developmental delay and joint hypermobility UniProtKB/Swiss-Prot: 73 An autosomal recessive form
[malacards.org]
In addition to genes associated with the autosomal dominant and autosomal recessive forms of OI, the panels also contain genes for disorders included in the read more Connective
[ctgt.net]
UniProtKB/Swiss-Prot : 75 Osteogenesis imperfecta 15: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass,
[malacards.org]
UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 24: A form of non-syndromic sensorineural hearing loss.
[malacards.org]
Loci for genes inherited in autosomal dominant forms are referred to as DFNA, and for genes inherited in an autosomal recessive forms as DFNB, and those for genes inherited
[jpma.org.pk]
The non-syndromic forms of hearing loss are collectively referred to as DFN for the X-linked forms, DFNA for the autosomal dominant forms and DFNB for autosomal recessive
[ayubmed.edu.pk]
Most forms of LGMD are autosomal recessive although some rare forms are autosomal dominant.
[encyclopedia.com]
AUTOSOMAL RECESSIVE LGMD At least 17 different forms of autosomal recessive LGMD have been identified.
[rarediseases.org]
1C, etc., and the autosomal recessive forms as LGMD2A, 2B, 2C, etc.
[mda.org]
Loci for genes inherited in autosomal dominant forms are referred to as DFNA, and for genes inherited in an autosomal recessive forms as DFNB, and those for genes inherited
[jpma.org.pk]
UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 61: A form of non-syndromic sensorineural hearing loss.
[malacards.org]
can also cause autosomal recessive forms of the condition.
[ghr.nlm.nih.gov]
Whereas the X-linked recessive form is well documented, information is scantier on the autosomal dominant and autosomal recessive forms.
[checkorphan.org]
The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness.
[ncbi.nlm.nih.gov]
Autosomal recessive form The autosomal recessive form of centronuclear myopathy usually presents for the first time in childhood.
[socialstyrelsen.se]
Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem
[ncbi.nlm.nih.gov]
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia.
[ncbi.nlm.nih.gov]
Using samples from a large Omani family we recently mapped a gene for a novel autosomal recessive form of HSP (SPG35) in which the spastic paraplegia was associated with intellectual
[ncbi.nlm.nih.gov]
In autosomal recessive forms, mutations in the recently identified SPG11 gene seem to account for a majority of the complex forms of the disease with atrophy of the corpus
[dx.doi.org]
[…] chromosomes responsible for autosomal recessive, autosomal dominant, or X-linked forms of HSP and some of the proteins encoded by those genes. 3 – 5 The radiologic findings
[ajnr.org]
Objective: To identify the genotype and characterize the phenotype in a family with a novel form of complicated autosomal recessive hereditary spastic paraparesis (ARHSP).
[neurology.org]
Inheritance is most often autosomal dominant (see {182600}), but X-linked (see {312920}) and autosomal recessive (see {270800}) forms occur.
[diseaseinfosearch.org]
