期刊
JOURNAL OF MUSCULOSKELETAL & NEURONAL INTERACTIONS
卷 20, 期 4, 页码 610-613出版社
JMNI
关键词
Electromyography; Hereditary Motor Neuropathies; SMA; SMN1; SMN2
资金
- Italian Ministry of Health
Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular activity achieved, and life expectation four types of SMA are recognized. all caused by mutations in the SMN1 gene with SMN2 copy number influencing disease severity. Herein, we describe the case of a 31-year-old young male with normal psychomotor development who has experienced fatigue. cramps, and muscle fasciculations in the lower limbs for a period of 2 months. Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype.
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