Condition: Muscular Dystrophy


rs368970223 in ANO5 gene and Muscular Dystrophy PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

rs142336618 in GMPPB gene and Muscular Dystrophy PMID 27147698 2016 Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 27527004 2016 iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

rs1565930588 in HSPB8 gene and Muscular Dystrophy PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.