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2,796 Possible Causes for 1B,, ARG377HIS, DYSTROPHY,, LIMB GIRDLE,, MUSCULAR, TYPE

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

    Title Other Names: LGMD1B; Muscular dystrophy, proximal, type 1B Categories: This disease is grouped under: Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many[rarediseases.info.nih.gov] Homepage Rare diseases Search Search for a rare disease Autosomal dominant limb-girdle muscular dystrophy type 1B Disease definition Autosomal dominant limb-girdle muscular[orpha.net] Reference work entry DOI: 10.1007/978-3-540-29676-8_1049 Synonyms LGMD1B Definition and Characteristics Among the limb girdle muscular dystrophies (LGMD), the rare autosomal[link.springer.com] […] due to lamin A/C deficiency; muscular dystrophy, limb-girdle type 1B; proximal muscular dystrophy type 1B Alt IDs: OMIM:159001 , ICD10CM:G71.0, ORDO:264 Definition: An autosomal[informatics.jax.org] […] types of limb-girdle muscular dystrophy.[rarediseases.info.nih.gov] dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle[orpha.net]

    Missing: ARG377HIS
  • Limb-Girdle Muscular Dystrophy

    Abstract BACKGROUND: Cardioembolic stroke is an under-recognized complication in patients with limb-girdle muscular dystrophy 1B.[ncbi.nlm.nih.gov] 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] We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation.[ncbi.nlm.nih.gov] We describe a patient with limb-girdle muscular dystrophy type 1B (LGMD1B) carrying a heterozygous p.Arg377His mutation in LMNA, in whom skeletal muscle symptom onset was[ncbi.nlm.nih.gov]

    Missing: ARG377HIS
  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance.[ncbi.nlm.nih.gov] Title Other Names: LGMD1B; Muscular dystrophy, proximal, type 1B Categories: This disease is grouped under: Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many[rarediseases.info.nih.gov] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] These two types affect both sexes about equally. Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org] Limb-girdle muscular dystrophy type 1 (LGMD1) Limb-girdle muscular dystrophy type 1 (LGMD1) is inherited in an autosomal dominant manner.[thinkgenetic.com] Homepage Rare diseases Search Search for a rare disease Autosomal dominant limb-girdle muscular dystrophy type 1B Disease definition Autosomal dominant limb-girdle muscular[orpha.net]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K

    [updated Mar. 2017 by FlyBase; FBrf0222196 ] Disease Summary Information Parent Disease Summary: muscular dystrophy, limb-girdle Symptoms and phenotype Limb-girdle muscular[flybase.org] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012;20:1234–9.[link.springer.com] 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 Muscular Dystrophy, Limb-Girdle, Type 2K MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1[wikidata.org] […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org] Telethoninopathy LGMD2G GMT, Rod-like structures myotilinopathy NADH, lobulated fibres Calpainopathy Genetics: Autosomal dominant types: LGMD 1A, Myotilin, TTID gene chr. 5q31 LGMD 1B[learningneurology.com]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A

    […] atrophy and weakness of proximal limb and girdle muscles.[ncbi.nlm.nih.gov] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] Abstract Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated.[ncbi.nlm.nih.gov] 2A This depends upon the type.[checkorphan.org] How common is limb-girdle muscular dystrophy type 2A?[geneaware.clinical.bcm.edu] Abstract Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles[ncbi.nlm.nih.gov]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C

    The joint contractures may be either absent or mild with late onset LGMD type 1B [ 5 ].[omicsonline.org] Causes - Limb-girdle muscular dystrophy- type 2C Muscular dystrophy is caused by various genetic mechanisms.[checkorphan.org] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] ) form of severe childhood autosomal recessive muscular dystrophy.[ncbi.nlm.nih.gov] How common is limb-girdle muscular dystrophy type 2C?[geneaware.clinical.bcm.edu] […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J

    For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] 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] 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] Cardioembolic stroke related to limb-girdle muscular dystrophy 1B. BMC Research Notes. 2013;6:32.[pubs.sciepub.com]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O

    Term Name: autosomal recessive limb-girdle muscular dystrophy type 2O Search Ontology: Synonyms: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3[zfin.org] Homepage Rare diseases Search Search for a rare disease Autosomal dominant limb-girdle muscular dystrophy type 1B Disease definition Autosomal dominant limb-girdle muscular[orpha.net] The joint contractures may be either absent or mild with late onset LGMD type 1B [ 5 ].[omicsonline.org] 2A This depends upon the type.[checkorphan.org] 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] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L

    Keywords Anoctamin-5 Limb-girdle muscular dystrophy Distal myopathy References 1. Bolduc V, Marlow G, Boycott KM, et al.[link.springer.com] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] 2A This depends upon the type.[checkorphan.org] 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] […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org] type of limb-girdle muscular dystrophy.[rarediseases.info.nih.gov]

    Missing: ARG377HIS
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T

    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] For example: Neonatal hypotonia occurs in LGMD 1B. Contractures are most common in LGMD 1B.[patient.info] Image : “Duchenne-muscular-dystrophy” by Dr. Edwin P. Ewing, Jr..[lecturio.com] 2A This depends upon the type.[checkorphan.org] Limb-girdle muscular dystrophy type 1 (LGMD1) Limb-girdle muscular dystrophy type 1 (LGMD1) is inherited in an autosomal dominant manner.[thinkgenetic.com] […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org]

    Missing: ARG377HIS