Key result
Investigation of five patients with autosomal recessive distal myopathy revealed one case resembling the Nonaka form and four representing the commoner variety of recessive distal dystrophy.
Case Report (n=5)
The study characterizes five patients with autosomal recessive distal myopathy, identifying one as resembling the Nonaka form and others as the commoner variety.
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Supports recognition of distinct recessive distal myopathy phenotypes; leaves open validation in larger genetic cohorts.
Five patients with an autosomally recessively transmitted distal myopathy were investigated. Of these, three belonged to a single sibship. Studies included electromyography, histological examination of muscle tissue, histochemical, electron microscopical, and biochemical analyses. One of the cases resembled the Nonaka form while the others were regarded as expressions of the commoner variety of recessive distal dystrophy.
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Isaacs et al. (1988) conducted a case report in Autosomal recessive distal myopathy (n=5). Clinical, histological, and biochemical investigation was evaluated on Clinical and pathological characterization. Investigation of five patients with autosomal recessive distal myopathy revealed one case resembling the Nonaka form and four representing the commoner variety of recessive distal dystrophy.
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