Confirmation of SLC5A7 ‐related distal hereditary motor neuropathy 7 in a family outside Wales-Reference-Cited by-同舟云学术

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

Published:2018-05-21 Issue:2 Volume:94 Page:274-275
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Hamanaka K.¹^ORCID,Takahashi K.²,Miyatake S.¹³,Mitsuhashi S.¹,Hamanoue H.³,Miyaji Y.²,Fukai R.²,Doi H.²,Fujita A.¹,Imagawa E.¹^ORCID,Iwama K.¹^ORCID,Nakashima M.⁴,Mizuguchi T.¹,Takata A.¹,Miyake N.¹^ORCID,Takeuchi H.²,Tanaka F.²,Matsumoto N.¹

Affiliation:

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

Funder

Japan Science and Technology Agency

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13369

Reference4 articles.

1. Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

2. Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis

3. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

4. Hereditary distal spinal muscular atrophy with vocal cord paralysis.

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