Results 91 to 100 of about 1,101 (163)

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

Objective: 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).
Bushby K; Aoki M; Bourg N; Beley C; McKenna-Yasek D; Arahata K; Bohlega S; Cupler E; Illa I; Majneh I; Barohn RJ; Urtizberea JA; Liu J; Fardeau M; Amato A; Angelini C; Beckmann JS; Brown Jr RH; Richard I; Bashir R; Britton S; Keers SM; Oeltjen J; Brown HEV; Marchand S
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Clinical Presentation, Diagnosis, and Genetic Insights of Miyoshi Myopathy: A Case Report and Literature Review. [PDF]

Cureus
Stolarski Ł, Patrzałek P, Gerber F, Tokarczyk W, Bialasik-Misiorny M, Kulma M.   +5 more
europepmc   +1 more source

Patients with a non-dysferlin miyoshi myopathy have a novel membrane repair defect

Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene.
Miyake K, Jaiswal JK, Mahjneh I, Kiuru-Enari S, Anderson LVB, McNeil PL, Haase H, Summerill G, Richard I, Marlow G, Hill M, Simon SM, Mueller S, Bashir R   +13 more
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Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies [PDF]

Human Mutation, 2005
Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, France Leturcq, Nicolas Lévy   +12 more
openaire   +1 more source

Welander distal myopathy : clinical and genetic studies

, 1998
Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal ...
Gabrielle Åhlberg (19493839)
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Welander distal myopathy : clinical and genetic studies [Elektronisk resurs]

, 1998
Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal ...
Åhlberg, G,
core  

Dysferlinopathy: A clinical and histopathological study of 28 patients from India

, 2010
Background: Miyoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD2B) are distinct clinical entities because different muscle groups are involved at the onset.
Nalini, A., Gayathri, N.
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Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Untangling Complexity in Dysferlinopathy With MRI Modeling of Disease Trajectory. [PDF]

Neurol Genet
Morrow JM.
europepmc   +1 more source

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. [PDF]

J Korean Med Sci, 2006
Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW.   +5 more
europepmc   +1 more source