منابع مشابه
Hereditary persistent distal cramps.
A disease consisting of persistent muscle cramps involving distal muscle groups that occurred in 12 members of the same family is described. The cramps appeared on exertion and in full relaxation or during sleep. In the third generation they appeared in the second decade; in the fourth and fifth generations in childhood with higher frequency and intensity of cramps. The disease is not sex linke...
متن کاملMolecular genetics of distal hereditary motor neuropathies.
Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical ...
متن کاملDistal renal tubular acidosis with hereditary spherocytosis.
Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.
متن کاملDistal hereditary upper limb muscular atrophy.
OBJECTIVES To identify the clinical, electrophysiological, and genetic characteristics of a family with an unusual form of hereditary motor neuron disease. METHODS Surviving members of a pedigree in which affected members presented with weakness and atrophy of distal musculature in the upper limbs were examined clinically and electrophysiologically, and had genetic testing. RESULTS The dise...
متن کاملHereditary Distal Foreleg Curvature in the Rabbit
An inwardly directed curvature of the distal segment of both forelegs of the rabbit has been described. The condition was detected at 2 to 3 weeks of age, developed rapidly, and reached its final and permanent stage at 2 to 3 months of age. Only the distal epiphysis of the ulna was primarily affected and this in the form of a massive chondrodystrophic lesion accompanied by a progressive curvatu...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1972
ISSN: 0022-3050
DOI: 10.1136/jnnp.35.3.379