Results 151 to 160 of about 2,422 (183)

Novel dysferlin mutations and characteristic muscle atrophy in late‐onset Miyoshi myopathy

Muscle & Nerve, 2004
AbstractMiyoshi myopathy is characterized by weakness of the calf muscles during early adulthood. We report a case of late‐onset Miyoshi myopathy presenting at 48 years of age, with novel mutations in the dysferlin gene. Muscle computed tomography clearly revealed severe atrophy in the soleus and medial gastrocnemius muscles.
Naoki, Suzuki, Masashi, Aoki, Toshiaki, Takahashi, Daiki, Takano, Masahiro, Asano, Yusei, Shiga, Yoshiaki, Onodera, Maki, Tateyama, Yasuto, Itoyama   +8 more
openaire   +4 more sources

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

European Journal of Neurology, 2007
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene ...
H, Hattori, E, Nagata, Y, Oya, T, Takahashi, M, Aoki, D, Ito, N, Suzuki   +6 more
openaire   +4 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

Discordant manifestation in brothers with Miyoshi myopathy

Journal of the Neurological Sciences, 2017
Kongkiat Kulkantrakorn, Tumtip Sangruchi
openaire   +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
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A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy

Rinsho Shinkeigaku, 2008
We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius.
Toshihiko, Shirafuji, Yoshihisa, Otsuka, Hiroshi, Kobessho, Narihiro, Minami, Yukiko, Hayashi, Ichizo, Nishino, Fumio, Kanda   +6 more
openaire   +2 more sources

Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy

Neuromuscular Disorders, 1999
Miyoshi myopathy is a rare autosomal recessive distal myopathy characterized by early and prominent involvement of the posterior compartment of the legs. We describe two patients with the clinical diagnosis of Miyoshi myopathy who demonstrated marked inflammatory changes on muscle biopsy of clinically less affected muscles.
J, Rowin, M N, Meriggioli, E J, Cochran, D B, Sanders   +3 more
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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 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
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[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