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X-Linked myopathy with excessive autophagy: A new hereditary muscle disease

✍ Scribed by Dr. Hannu Kalimo; Marja-Liisa Savontaus; Heikki Lang; Leo Paljärvi; Vesa Sonninen; Peter B. Dean; Kalevi Katevuo; Antero Salminen


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
1012 KB
Volume
23
Category
Article
ISSN
0364-5134

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Six men from three generations of one family had manifestations of a possible new syndrome. All had congenital contractures of the feet at birth, a slowly progressive predominantly distal muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mild mental retardation. The pedigree is com