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UnknownMutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Not available
S-EPMC378532 | biostudies-literature
UnknownThe clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Not available
S-EPMC7713742 | biostudies-literature
UnknownNew FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Not available
S-EPMC2244647 | biostudies-literature
UnknownMutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Not available
S-EPMC1235559 | biostudies-literature
UnknownApproach to the diagnosis of congenital myopathies.
Not available
S-EPMC5257342 | biostudies-literature
UnknownDiagnostic approach to the congenital muscular dystrophies.
Not available
S-EPMC5258110 | biostudies-literature
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