Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
نویسندگان
چکیده
منابع مشابه
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic ...
متن کاملThe survival motor neuron protein in spinal muscular atrophy.
The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN (SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal muscular atrophy (SMA), an autosomal recessive disorder that results in loss of motor neurons. SMN is found in the cytoplasm and nucleus. The nuclear form is located in structures termed gem...
متن کاملDeletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.
INTRODUCTION Spinal muscular atrophy (SMA) is a common neuromuscular disorder with progressive paralysis caused by the loss of alpha-motor neurons in the spinal cord. The survival motor neuron (SMN) protein is encoded by 2 genes, SMN1 and SMN2. The most frequent mutation is the biallelic deletion of exon 7 of the SMN1 gene. In SMA, SMN2 cannot compensate for the loss of SMN1, due to the exclusi...
متن کامل[arthrogryposis Multiplex Congenita].
Arthrogryposis multiplex congenita (amyoplasia congenita) is an infrequent cause of’ severe crippling. Although it is often possible to alleviate tile grave disability which it cOtllrflOtlly causes, its rarity impedes the accumulation of enough clinical experience to establish guiditig principles and indications for surgical treatment. We have been able to examine fifty-two patients with this d...
متن کاملMolecular bases of spinal muscular atrophy: the survival motor neuron gene
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration and loss of motor neurons of the anterior horn of the spinal cord. The clinical manifestations include proximal symmetric weakness and progressive muscle atrophy. The identification of the SMN1 gene as determinant of SMA has opened alternative ways of studying the disease. Absence of SMN1...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1996
ISSN: 0021-9738
DOI: 10.1172/jci118895