Alpha-Dystroglycanopathy

Yoshioka, Mieko

doi:10.5772/30327

Cited by 1 publication

(1 citation statement)

References 27 publications

(49 reference statements)

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“…Although each gene was originally described as associated with one syndrome, further genotype–phenotype correlations have broadened these associations to both more severe and less severe conditions. In fact, many of the genes originally linked to CMDs were later found to cause recessive forms of LGMD, and we now know that the dystroglycanopathies represent a broad spectrum of phenotypes with shared underlying molecular pathology (Muntoni, 2007; Riisager et al, 2013; Yoshioka, 2012). …”

Section: Introductionmentioning

confidence: 99%

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Ismail

Schaffer

Rosti

et al. 2014

Gene

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Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common autosomal recessive diseases among the Japanese population, and yet few patients outside of Japan had been reported with this disorder. We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures, severe scoliosis, elevated serum creatine kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene. In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations. Our results expand the geographic and clinical spectrum of fukutin mutations.

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Section: Introductionmentioning

confidence: 99%