PMID: 6172565Jan 1, 1981Paper

A new type of distal myopathy in two brothers

Journal of Neurology
E Kuhn, J M Schröder

Abstract

Two brothers are described with a distal myopathy different from the known hereditary distal myopathies. Early adult onset, beginning in the distal leg muscles with marked elevation of creatine kinase (CK) activity (20 to 30-fold) were the characteristic features. The parents of the patients had no symptoms or signs of myopathy. Their serum CK-activity was in the normal range. There was parental consanguinity, so the distal myopathy in these brothers is probably an autosomal recessive inheritance.

References

Aug 1, 1977·Neurology·W R MarkesberyB Herr
Mar 1, 1979·Annals of Neurology·R G MillerR B Layzer

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Citations

Jul 23, 1998·Neuromuscular Disorders : NMD·R J BarohnR C Griggs
Feb 1, 1988·Journal of Clinical Pathology·H IsaacsT Whistler
Jan 5, 2013·Neurology India·Meena A KannanR Borgohain
Jul 20, 2014·Neurologic Clinics·Mazen M Dimachkie, Richard J Barohn
Dec 31, 1997·Italian Journal of Neurological Sciences·C ScoppettaM L Vaccario
Dec 18, 2001·Muscle & Nerve·D S SapersteinR J Barohn
Aug 1, 1995·Acta Neurologica Scandinavica·C ScoppettaM L Vaccario
Jul 1, 1984·Muscle & Nerve·C ScoppettaG Mennuni

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