Article
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Neuromuscular disorders : NMD - 1 Oct 2004
Kinali M, Jungbluth H, Eunson L H, Sewry C A, Manzur A Y, Mercuri E, Hanna M G, Muntoni F
Abstract excerpt
We report an unusual family in which the same point mutation in the voltage-gated potassium channel gene KCNA1 resulted in markedly different clinical phenotypes. The propositus presented in infancy with marked muscle stiffness, motor developmental delay, short stature, skeletal deformities, muscle hypertrophy and muscle rippling on percussion. He did not experience episodic ataxia. His mother presented some...
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