Results 111 to 120 of about 880 (137)

Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein

Gene
Dysferlin protein deficiency can cause neuromuscular dysfunction, resulting in autosomal recessive dysferlinopathy, which is caused by DYSF gene mutation. Dysferlin proteins belongs to the Ferlin1-like protein family and are associated with muscle membrane repair and regeneration.
Jinyi, Zhou, Rui, Zhou, Qihua, Feng, Xiaoxiang, Song, Xuqin, Chen   +4 more
exaly   +3 more sources

Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes

Neurogenetics, 1998
Miyoshi myopathy (MM) is an early adult-onset, autosomal recessive disorder characterized by weakness and muscular atrophy starting in the distal muscles. The disease locus has been previously mapped by linkage analysis to chromosome 2p using the microsatellite marker D2S291.
, Denis Le Paslier, Le Paslier D
exaly   +3 more sources

Discordant manifestation in brothers with Miyoshi myopathy

Journal of the Neurological Sciences, 2017
Kongkiat Kulkantrakorn, Tumtip Sangruchi
exaly   +2 more sources

A novel dysferlin gene mutation in a Filipino male with Miyoshi myopathy

Clinical Neurology and Neurosurgery, 2021
Karen Joy Adiao, Mario Prado
exaly   +3 more sources

Dysferlin mutations in Japanese Miyoshi myopathy

Neurology, 2003
To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM).MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B.The authors examined 25 Japanese patients with MM ...
T, Takahashi, M, Aoki, M, Tateyama, E, Kondo, T, Mizuno, Y, Onodera, R, Takano, H, Kawai, K, Kamakura, H, Mochizuki, M, Shizuka-Ikeda, M, Nakagawa, Y, Yoshida, J, Akanuma, K, Hoshino, H, Saito, M, Nishizawa, S, Kato, K, Saito, T, Miyachi, H, Yamashita, M, Kawai, T, Matsumura, S, Kuzuhara, T, Ibi, K, Sahashi, H, Nakai, T, Kohnosu, I, Nonaka, K, Arahata, R H, Brown, H, Saito, Y, Itoyama   +32 more
openaire   +2 more sources

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

Neurology, 2001
Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organization of the dysferlin gene and conduct mutational screening and a survey of clinical features in 21 patients ...
Aoki, M., Liu, J., Richard, I., Bashir, R., Britton, S., Keers, S. M., Oeltjen, J., Brown, H. E. V., Marchand, S., Bourg, N., Beley, C., McKenna-Yasek, D., Arahata, K., Bohlega, S., Cupler, E., Illa, I., Majneh, I., Barohn, R. J., Urtizberea, J. A., Fardeau, M., Amato, A., Angelini, C., Bushby, K., Beckmann, J. S., Brown, R. H.   +24 more
openaire   +4 more sources

Dysferlin is a surface membrane–associated protein that is absent in Miyoshi myopathy

Neurology, 1999
Recently we reported that mutations in a muscle protein "dysferlin" are present in limb girdle muscular dystrophy-2B and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM). We report that antibodies to dysferlin identify a protein of approximately 230 kDa and show that dysferlin is located in the muscle membrane.
C, Matsuda, M, Aoki, Y K, Hayashi, M F, Ho, K, Arahata, R H, Brown   +5 more
openaire   +2 more sources

Achilles Tendon Lengthening for Equinus Foot with Miyoshi Myopathy: A Case Report

The Journal of Foot and Ankle Surgery, 2014
A 17-year-old male presented with reduced muscle strength in both lower limbs and demonstrated equinus foot (ankle equinus) in the right lower limb. Using dysferlin immunostaining, the patient was diagnosed with Miyoshi myopathy by the neurologist. Achilles tendon lengthening was performed, and a plantigrade foot without ankle equinus was achieved.
Kazuya, Ikoma, Masahiro, Maki, Masamitsu, Kido, Yuji, Arai, Hiroyoshi, Fujiwara, Toshikazu, Kubo   +5 more
openaire   +2 more sources

[Miyoshi distal muscular dystrophy (Miyoshi myopathy)].

Brain and nerve = Shinkei kenkyu no shinpo, 2011
We present an overview of autosomal recessive distal muscular dystrophy (ARDMD), including recent molecular genetic findings. ARDMD is often referred to as Miyoshi-type distal muscular dystrophy (MDMD) or Miyoshi myopathy (MM). The onset of MDMD occurs in early adulthood.
openaire   +1 more source

[Miyoshi distal myopathy: specific signs and incidence].

Revue neurologique, 2000
We report 21 French patients (12 males and 9 females), presenting a distal myopathy of Miyoshi type. The main clinical features of these patients were 1) onset in late adolescence or early adulthood (mean age: 20.3 years), 2) early and predominant involvement of the posterior compartment muscles of legs, 3) marked elevation of serum CK (from 10 to 50 ...
B, Eymard, P, Laforêt, F M, Tomé, H, Collin, J P, Leroy, J J, Hauw, I, Richard, J, Beckmann, M, Fardeau   +8 more
openaire   +1 more source