Childhood Onset of Limb-Girdle Muscular Dystrophy
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference132 articles.
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2. A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy;Hicks;Brain,2011
3. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010
4. The limb-girdle muscular dystrophies: Multiple genes, multiple mechanisms;Bushby;Hum Mol Genet,1999
5. Limb-girdle muscular dystrophy in the United States;Moore;J Neuropathol Exp Neurol,2006
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1. Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant;Journal of Medical Genetics;2023-05-16
2. Muscular dystrophy in childhood;Neurologie pro praxi;2019-06-12
3. Identification of a novel SGCA missense mutation in a case of limb‐girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins;Neuropathology;2019-04-15
4. Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy;Case Reports in Genetics;2018-07-16
5. Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study;Disability and Rehabilitation;2018-04-24
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