Nonprogressive congenital neuromuscular disease with uniform type 1 fiber.
Nonprogressive congenital neuromuscular disease with uniform type 1 fiber.
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具有均匀 1 型纤维的非进行性先天性神经肌肉疾病。
DOI：
10.1001/archneur.1983.04050030041007
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发表时间：
1983
影响因子：
--
通讯作者：
M. Danon
中科院分区：
文献类型：
--
作者：
S. Oh;M. Danon
3例患者患有非进行性先天性神经肌肉疾病，具有均匀的1型纤维。均匀纤维型定义为99%以上的肌纤维属于一种类型。这些病例的特征为早期症状发作、轻度近端无力、反射减退或反射消失、血清肌酶水平正常、运动单位电位持续时间短、1型纤维均匀和无进展。这些病例是一种独特的非进行性先天性神经肌肉疾病。
Three patients had nonprogressive congenital neuromuscular disease with uniform type 1 fiber. Uniform fiber type was defined as more than 99% of muscle fibers belonging to one type. These cases were characterized by early onset of symptoms, mild proximal weakness, hyporeflexia or areflexia, normal serum muscle enzyme levels, short duration of motor unit potentials, uniform type 1 fibers, and nonprogression. These cases represent a distinct form of nonprogressive congenital neuromuscular disease.