Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales

Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21.

Authors

K Hamanaka¹, K Takahashi², S Miyatake^{1

3}, S Mitsuhashi¹, H Hamanoue³, Y Miyaji², R Fukai², H Doi², A Fujita¹, E Imagawa¹, K Iwama¹, M Nakashima⁴, T Mizuguchi¹, A Takata¹, N Miyake¹, H Takeuchi², F Tanaka², N Matsumoto¹

Affiliations

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
² Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
³ Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
⁴ Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

PMID: 29782645
DOI: 10.1111/cge.13369

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Female
Hereditary Sensory and Motor Neuropathy / genetics*
Hereditary Sensory and Motor Neuropathy / physiopathology
Humans
Japan
Loss of Function Mutation / genetics
Male
Middle Aged
Muscular Atrophy, Spinal / genetics*
Muscular Atrophy, Spinal / physiopathology
Pedigree
Symporters / genetics*
Wales

Substances

SLC5A7 protein, human
Symporters

Supplementary concepts

Distal Hereditary Motor Neuropathy, Type II