منابع مشابه
X-linked scapuloperoneal syndrome.
Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations ...
متن کاملNeurogenic scapuloperoneal syndrome in childhood.
Two brothers presented with a slowly progressive scapuloperoneal syndrome starting in early childhood. Initially there were myopathic EMG changes, but these changed to those of denervation. Neuromuscular biopsies at an interval of five years confirmed the neurogenic character of the muscle atrophy.
متن کاملX-linked Alport syndrome
X-linked Alport syndrome (AS) is a heritable disorder which is associated with mutations in the type IV collagen oc5(IV) chain gene (COL4A5) located on chromosome X. Following renal transplantation, an average of 6% of male AS patients develop anti-GBM nephritis. We studied the specificity of the antibodies against type IV collagen in the serum of a patient with COL4A5 partial deletion. The spe...
متن کاملScapuloperoneal atrophy with sensory involvement: Davidenkow's syndrome.
A patient with scapuloperoneal atrophy of neurogenic type, in whome there was also distal sensory impairment, has been studied with conventional EMG, single fibre EMG, and muscle biopsy. This disorder, described by Davidenkow, may be a distinct entity.
متن کاملMouse model of X-linked Alport syndrome.
X-linked Alport syndrome (XLAS) is a progressive disorder of basement membranes caused by mutations in the COL4A5 gene, encoding the alpha5 chain of type IV collagen. A mouse model of this disorder was generated by targeting a human nonsense mutation, G5X, to the mouse Col4a5 gene. As predicted for a nonsense mutation, hemizygous mutant male mice are null and heterozygous carrier female mice ar...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1972
ISSN: 0022-3050
DOI: 10.1136/jnnp.35.2.208