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Article

Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Sept 2012

Nakamura Akinori, Hineno Akiyo, Yoshida Kunihiro, Sekijima Yoshiki, Hanaoka-Tachibana Naoko, Takei Yo-Ichi, Ohara Shinji, Ikeda Shu-Ichi

Abstract excerpt

Our objectives were to identify the disease-causing mutation in, and report on the clinical features of, a Japanese family that had coexisting phenotypes of amyotrophic lateral sclerosis and spinal muscular atrophy. The family comprised nine patients (six men and three women). We reviewed their clinical records and performed mutation analysis of the copper/zinc superoxide dismutase (SOD1) gene in some of these...

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PMID: 22409359
DOI: 10.3109/17482968.2011.656311

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SOD1

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