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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myositis
Comorbidity C0026850|muscular dystrophy
Sentences 5
PubMedID- 21798087 Defective membrane repair in dysferlin-deficient muscle leads to the development of muscular dystrophy associated with remarkable muscle inflammation.
PubMedID- 24755310 Rvs are not disease-specific, and are often seen in adult-onset chronic myopathies such as inclusion body myositis, distal myopathy with rvs, oculopharyngeal muscular dystrophy, and myofibrillar myopathies.
PubMedID- 20515317 Expression of marp is reduced in dystrophic muscle (pallavicini et al., 2001) but increased following denervation (tsukamoto et al., 2002), in a mouse model of muscular dystrophy with myositis due to titin n2a deletion and in heart failure (zolk et al., 2002).
PubMedID- 23824195 We demonstrate that the primary myoblasts of mdm (muscular dystrophy with myositis) mice (pmb(mdm)) overexpress ankrd2 and id3 (inhibitor of dna binding 3) proteins and are unable to differentiate into myotubes upon myogenic induction.
PubMedID- 25573826 The muscular dystrophy with myositis (mdm) mouse is characterized by a deletion in titin's n2a region.

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