Orphanet: Distal myotilinopathy

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Disease definition

A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

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Distal myotilinopathy

ORPHA:98911

A summary on this disease is available in Deutsch (2017) Español (2017) Italiano (2017) Nederlands (2017)

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