منابع مشابه
Distal myopathies.
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype and the significant overlap in the clinica...
متن کاملDistal myopathies--new genetic entities expand diagnostic challenge.
Distal myopathies are a group of muscle diseases which share the clinical pattern of predominant weakness in the feet and/or hands. Rapid advance in the understanding of underlying gene defects have to date separated more than 20 distinct disorders and many are yet without genetic characterisation. No definite diagnosis can be made on other grounds than identification of the final molecular gen...
متن کاملDistal myopathies a review: highlights on distal myopathies with rimmed vacuoles.
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies. The identification of few causative genes made the broad classification of these diseases under "distal myopathies" disputab...
متن کاملDistal myopathies: clinical and molecular diagnosis and classification
The distal myopathies are a clinically and pathologically heterogeneous group of genetic disorders in which the distal muscles of the upper or lower limbs are selectively or disproportionately aVected. Although there is some uncertainty as to the actual diagnosis, the first case description of distal myopathy is usually attributed to Gowers in 1902. However, it was not until the landmark public...
متن کاملDistal myopathies: clinical and molecular diagnosis and classification
The distal myopathies are a clinically and pathologically heterogeneous group of genetic disorders in which the distal muscles of the upper or lower limbs are selectively or disproportionately aVected. Although there is some uncertainty as to the actual diagnosis, the first case description of distal myopathy is usually attributed to Gowers in 1902. However, it was not until the landmark public...
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ژورنال
عنوان ژورنال: Journal of the Neurological Sciences
سال: 2019
ISSN: 0022-510X
DOI: 10.1016/j.jns.2019.10.072