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3,779 Possible Causes for (allelic, 1C, DYSTROPHY,, LIMB GIRDLE,, MUSCULAR, TYPE, variant)

  • Limb-Girdle Muscular Dystrophy

    To clarify the meaning of low-frequency variants in LGMD genes, we have selected all variants described as causative in the Leiden Open Variation Database and the Human Gene[ncbi.nlm.nih.gov] Patient 3 had del521T on her maternal allele and an exon 6 deletion on her paternal allele.[ncbi.nlm.nih.gov] LGMD 1C (caveolin 3) Childhood - adult Rippling muscle disease (see 'Presentation' section). Cramps and myalgia after exercise are common.[patient.info] Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[ncbi.nlm.nih.gov] Limb-girdle syndromes.[ncbi.nlm.nih.gov] […] imaging Publication type, MeSH terms, Substances, Supplementary concept Publication type Research Support, Non-U.S.[ncbi.nlm.nih.gov] Their mildly affected compound heterozygous mother harbored, in addition to one null allele, an in-frame exon-skipping allele caused by a novel lariat branch point mutation[ncbi.nlm.nih.gov]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

    The child must inherit a pathogenic variant from each carrier parent in order to be affected.[geneaware.clinical.bcm.edu] In 8/9 heterozygous patients another CAPN3 mutation on the second allele was identified. Two mutations (Val509Phe and Gln565Stop) are novel.[thieme-connect.com] LGMD-1C is caused by changes in the caveolin-3 gene ( CAV3 ).[dmd.nl] Abstract Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated.[ncbi.nlm.nih.gov] […] atrophy and weakness of proximal limb and girdle muscles.[ncbi.nlm.nih.gov] 2A This depends upon the type.[checkorphan.org] To the best of our knowledge, therefore, four alleles from Vietnamese patients have been shown to encode this mutation.[omicsonline.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K

    FT VARIANT 251 251 Q - W (requires 2 nucleotide FT substitutions; dbSNP:rs386738991). FT /FTId VAR_034389. FT VARIANT 285 285 L - F (in dbSNP:rs201073763).[genome.jp] Disease (Disease Ontology) (0 alleles)[flybase.org] LGMD-1C is caused by changes in the caveolin-3 gene ( CAV3 ).[dmd.nl] Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012;20:1234–9.[link.springer.com] Rod-like structures myotilinopathy NADH, lobulated fibres Calpainopathy Genetics: Autosomal dominant types: LGMD 1A, Myotilin, TTID gene chr. 5q31 LGMD 1B, Lamin A/C LGMD 1C[learningneurology.com] Disease phenotype Item in this table Key references Gene symbol (chromosome) protein All allelic disease phenotypes - locus/disease symbols Duchenne/Becker Muscular Dystrophies[195.83.227.65] (DMD) Becker muscular dystrophy (DMD) Limb-girdle muscular dystrophy, type 1A (MYOT) Limb-girdle muscular dystrophy, type 1B (LMNA) Limb-girdle muscular dystrophy, type 1C[meduniwien.ac.at]

  • Congenital Muscular Dystrophy Type 1C

    This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages The variants shown are described using the NM_024301.4 transcript reference sequence[databases.lovd.nl] The c.826C A (p.L276I) variant is the most common FKRP gene variant, accounting for approximately 80% of the LGMD2I causing alleles in European and North American patients[healthcare.uiowa.edu] Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.[link.springer.com] See other definitions of LGMD Samples in periodicals archive: In a separate study, he and his associates transferred the large limb-girdle muscular dystrophy type 2D gene[acronymfinder.com] Variant 1 p.Leu276Ile; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 Identified Mutation c.826C A Gene FKRP Chromosomal Location 19q13.3 Allelic Variant[coriell.org] Chapter First Online: 06 October 2017 Abstract MDC1C is a form of congenital muscular dystrophy with mental retardation and structural brain abnormalities and belongs to a[link.springer.com] Life expectancy is unknown, although most patients with limb-girdle muscular dystrophies have a shorter than natural life-span.[sema4.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    Likely pathogenic variant was identified by comparing the patient’s genome with a normal human genome.[frontiersin.org] FSHD2 has been reported to exhibit incomplete penetrance in 20% of individuals with a SMCHD1 mutation, hypomethylation of D4Z4 and a permissive 4qA allele.[invitae.com] LGMD-1C is caused by changes in the caveolin-3 gene ( CAV3 ).[dmd.nl] Molecular pathology Defects of TTN, which encodes a critical protein in striated muscle, cause limb-girdle muscular dystrophy type 2J.[medical-dictionary.thefreedictionary.com] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] 2A This depends upon the type.[checkorphan.org] (DMD) Becker muscular dystrophy (DMD) Limb-girdle muscular dystrophy, type 1A (MYOT) Limb-girdle muscular dystrophy, type 1B (LMNA) Limb-girdle muscular dystrophy, type 1C[meduniwien.ac.at]

  • Distal Myopathy Type Tateyama

    […] reported 348 Unique public DNA variants reported 97 Individuals with public variants 473 Hidden variants 29 Notes This database is one of the gene variant databases from[lovd.nl] Full text of GeneReview (by section): Summary GeneReview Scope Diagnosis Clinical Characteristics Genetically Related (Allelic) Disorders Differential Diagnosis Management[ncbi.nlm.nih.gov] Chapter First Online: 27 June 2014 Abstract LGMD type 1C has been recognized to be caused by mutations in the CAV3 gene, encoding for caveolin-3 protein (Table 7.1).[link.springer.com] ; myotonic dystrophy types 1 and 2; and distal muscular dystrophies.[books.google.com] A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31–q33: evidence for another limb-girdle muscular dystrophy[nature.com] [from GHR] Source: GTR (NCBI/NIH) 1 • • • Back to: « Distal myopathy, Tateyama type References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C3280443/ • • • Note[familydiagnosis.com] Tateyama type Rippling muscle disease not provided Reversed 0 HGVS NC_000003.11:g.8775642G A; NC_000003.11:g.8775642G C CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic[snpedia.com]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I

    Currently, it is not possible to predict the severity of the disease based on the inherited variants.[sema4genomics.com] 2 deficiency and abnormal glycosilation of αDystroglycan Mutati - on in the fukutinrelated protein gene ( FKRP ) identify limb girdle muscular dystrophy 2 I as a milder allelic[semanticscholar.org] […] with several forms of inheritable muscular dystrophies (Limb Girdle Muscular Dystrophy type 2I; LGMD2I) of which some are congenital (Congenital Muscular Dystrophy type 1C[ece-inhibitor.com] ; myotonic dystrophy types 1 and 2; and distal muscular dystrophies.[books.google.com] What is Limb Girdle Muscular Dystrophy Type 2I?[patientslikeme.com] Alleles of patient 3, the brother of patient 1, were not used for the calculation.[jmg.bmj.com] […] milder form of congenital muscular dystrophy (CMD) called limb-girdle muscular dystrophy type 2I (LGMD2I) or a more severe form of CMD called merosin-deficient CMD type 1C[egl-eurofins.com]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1C

    Table 1: Identified variants in LGMD1 genes in LOVD and HGMD databases Table 2: In silico prediction of identified variants in LGMD1 genes Figure 1 Percentage of variants[nature.com] , sometimes overlapping muscle disease phenotypes, limb girdle muscular dystrophy (LGMD 1C), rippling muscle disease (RMD), distal myopathy and hyperCKemia [ 1 ].[link.springer.com] These two types affect both sexes about equally. Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org] (LGMD-1C).[researchoutput.csu.edu.au] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] LGMD limb-girdle syndrome myopathic limb-girdle syndrome MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE)[ghr.nlm.nih.gov] (LGMD-1C), rippling muscle disease (RMD), sporadic and familial forms of hyperCKemia, and distal myopathy [3].[wikigenes.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L

    Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.[egl-eurofins.com] In 8/9 heterozygous patients another CAPN3 mutation on the second allele was identified. Two mutations (Val509Phe and Gln565Stop) are novel.[thieme-connect.com] LGMD-1C is caused by changes in the caveolin-3 gene ( CAV3 ).[dmd.nl] Keywords Anoctamin-5 Limb-girdle muscular dystrophy Distal myopathy References 1. Bolduc V, Marlow G, Boycott KM, et al.[link.springer.com] 2A This depends upon the type.[checkorphan.org] The allele frequency of CAPN3 gene mutation c.550delA in Latvia is 0.0016 and in Lithuania - 0.0029.[springermedizin.de] […] rs121908954 Pathogenic, Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601], Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] 71,602,794( ) CAAGG(A/G)TCCTG nc-transcript-variant[genecards.org]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C

    The child must inherit a pathogenic variant from each carrier parent in order to be affected.[geneaware.clinical.bcm.edu] […] deletion of exon 6 in the other allele.[ncbi.nlm.nih.gov] LGMD-1C is caused by changes in the caveolin-3 gene ( CAV3 ).[dmd.nl] Causes - Limb-girdle muscular dystrophy- type 2C Muscular dystrophy is caused by various genetic mechanisms.[checkorphan.org] In 8/9 heterozygous patients another CAPN3 mutation on the second allele was identified. Two mutations (Val509Phe and Gln565Stop) are novel.[thieme-connect.com] (DMD) Becker muscular dystrophy (DMD) Limb-girdle muscular dystrophy, type 1A (MYOT) Limb-girdle muscular dystrophy, type 1B (LMNA) Limb-girdle muscular dystrophy, type 1C[meduniwien.ac.at] FSHD2 has been reported to exhibit incomplete penetrance in 20% of individuals with a SMCHD1 mutation, hypomethylation of D4Z4 and a permissive 4qA allele.[invitae.com]