Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
نویسندگان
چکیده
منابع مشابه
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies
Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a gr...
متن کامل[Spinal muscular atrophies].
In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited ...
متن کاملThe genetics of spinal muscular atrophies.
PURPOSE OF REVIEW This article reviews clinical, genetic, and therapeutic advances in spinal muscular atrophies (SMAs), inherited disorders characterized by motor neuron loss and muscle weakness. RECENT FINDINGS There has been progress in defining the clinical and genetic features of at least 16 distinct forms of SMA. The genes associated with 14 of these disorders have been identified in the...
متن کاملThe nosology of the spinal muscular atrophies.
In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited ...
متن کاملSMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...
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: Brain
سال: 2014
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awu169