The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain-Reference-Cited by-同舟云学术

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Published:2020-07-05 Issue:9 Volume:41 Page:1540-1554
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Izumi Rumiko¹²^ORCID,Takahashi Toshiaki³,Suzuki Naoki¹^ORCID,Niihori Tetsuya²^ORCID,Ono Hiroya¹⁴^ORCID,Nakamura Naoko¹^ORCID,Katada Shinichi⁵,Kato Masaaki¹,Warita Hitoshi¹^ORCID,Tateyama Maki¹⁴,Aoki Yoko²,Aoki Masashi¹

Affiliation:

1. Department of Neurology Tohoku University Graduate School of Medicine Sendai Japan

2. Department of Medical Genetics Tohoku University Graduate School of Medicine Sendai Japan

3. Department of Neurology National Hospital Organization Sendai‐Nishitaga Hospital Sendai Japan

4. Department of Neurology National Hospital Organization Iwate Hospital Ichinoseki Japan

5. Department of Neurology, Brain Research Institute Niigata University Niigata Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24036

Reference49 articles.

1. Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

2. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

3. Muscular dystrophy due to dysferlin deficiency in Libyan Jews

4. Defective membrane repair in dysferlin-deficient muscular dystrophy

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