Adult -related myopathy carriers: Classification based on deep phenotyping.

Objective: To better characterize adult myotubularin 1 ()-related myopathy carriers and recommend a phenotypic classification.

Methods: This cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed mutation and were recruited via the Congenital Muscle Disease International Registry (n = 8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH and Cure CMD (n = 1), and direct physician referral (n = 1).

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Introduction: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.

Methods: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016.

A natural history study of X-linked myotubular myopathy.

Objective: To define the natural history of X-linked myotubular myopathy (MTM).

Methods: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33).

Results: We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals.