Cutis Laxa
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]
In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.[ncbi.nlm.nih.gov]
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]
Autosomal Recessive Limb-Girdle Muscular Dystrophy
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]
Autosomal Recessive Cutis Laxa Type 1A
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]
Limb-Girdle Muscular Dystrophy Type 2E
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]
Lafora Disease
Lafora disease is a fatal, autosomal recessive form of progressive myoclonus epilepsy.[ncbi.nlm.nih.gov]
Lafora disease is an autosomal recessive form of progressive myoclonic epilepsy caused by defects in the EPM2A and EPM2B genes.[ncbi.nlm.nih.gov]
Abstract Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy.[ncbi.nlm.nih.gov]
Limb-Girdle Muscular Dystrophy Type 2A
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]
Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset..[dial.uclouvain.be]
DSMA here refers to the autosomal recessive forms of HMN. See also H00455 Spinal muscular atrophy (SMA).[genome.jp]
autosomal recessive forms, and early adult-onset autosomal recessive forms.[mayomedicallaboratories.com]
Autosomal Recessive Centronuclear Myopathy
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]
Autosomal Recessive Spastic Paraplegia Type 32
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]
Popliteal Pterygium Syndrome
We report on an additional patient with the severe autosomal recessive form of the popliteal pterygium syndrome.[ncbi.nlm.nih.gov]
The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal[ncbi.nlm.nih.gov]