Adult MTM1-related myopathy carriers: Classification based on deep phenotyping
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR.
Neurology. 2019. 93 (16), e1535-e1542.
Results of a cohort study performed at the NIH Clinical Center illustrating the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, pulmonary function tests, and MFM-32 scale composite score findings.
Articles in scientific journals
Ropars J, Gravot F, Ben Salem D, Rousseau F, Brochard S, Pons C. Neurology. 2020. 94(3):117-133. Review to assess the evidence of a relationship between muscle MRI and disease severity in Duchenne muscular dystrophy (DMD). Correlations between motor function tests,...read more
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Voos MC, Goya PSA, de Freitas BL, Pires AMT, Favero FM, Caromano FA. Arch Physiother. 2020 18;10:4. doi: 10.1186/s40945-020-0074-3. eCollection 2020. The aim of the study was to describe the evolution of timed immersion expiration in 57 patients with muscular...read more
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de Souza MA, Cezarani A, Lizzi EAD, Davoli GBQ, Mattiello SM, Jones R, Mattiello-Sverzut AC J Biomech. 2020. 98, 109485. Study of the applicability of the Gait Deviation Index (GDI) and the Gait Profile Score (GPS) in patients with duchenne Muscular Dystrophy, using...read more
Analysis of Different Device Interactions in a Virtual Reality Task in Individuals With Duchenne Muscular Dystrophy-A Randomized Controlled Trial
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Nagy S, Schädelin S, Hafner P, Bonati U, Scherrer D, Ebi S, Schmidt S, Orsini AL, Bieri O, Fischer D. Muscle Nerve. 2020. 61(1), 63-68. In this retrospective study, the longitudinal reliability of clinical and radiological endpoints in 29 ambulant patients with DMD...read more