Explore these resources to help deepen your understanding of XLMTM and facilitate patient and caregiver support

Audentes provides these resources for informational purposes only. This list is not intended to be an exhaustive summary of additional resources. Audentes does not guarantee the accuracy of information contained within these resources and does not endorse any of the listed resources or organizations.

Select X-linked myotubular myopathy (XLMTM) publications

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Graham R, Muntoni F, Hughes I, et al

X-linked myotubular myopathy: a prospective international natural history study

Annoussamy M, Lilien C, Gidaro T, et al
DOI: 10.1212/WNL.0000000000007319

Centronuclear myopathy: advances in genetic understanding and potential for future treatments

Zanoteli E

A multicenter, retrospective medical record review of patients with X-linked myotubular myopathy (XLMTM): the RECENSUS study

Beggs A, Byrne B, Chastonary S, et al

A natural history study of X-linked myotubular myopathy

Amburgey K, Tsuchiya E, Chastonay S, et al

Approach to the diagnosis of congenital myopathies

North K, Wang C, Clarke N, et al

Consensus statement on standard of care for congenital myopathies

Wang C, Dowling J, North K

X-linked myotubular myopathy

Dowling J, Lawlor M, Das S

Genotype–phenotype correlations in X-linked myotubular myopathy

McEntagart M, Parsons G, Buj-Bello A, et al

Websites with additional disease educational information for healthcare providers

NIH Genetics and Rare Diseases Information Center (GARD)
GARD provides access to current information about rare or genetic diseases.

Online Mendelian Inheritance in Man (OMIM)
OMIM is a catalog of human genes and genetic disorders maintained by Johns Hopkins University School of Medicine.

Treat-NMD Neuromuscular Network
Treat-NMD is a network for healthcare professionals, researchers, and patients focusing on scientific research and therapeutic advancements in the field of neuromuscular disease.

Genetic Testing Registry (GTR)
GTR provides information for healthcare providers on genetic testing for diseases including XLMTM.

Resources for patients and caregivers living with XLMTM

Global Genes
An international, non-profit patient advocacy organization dedicated to patients with rare disease and their caregivers

Joshua Frase Foundation
A non-profit organization dedicated to finding a cure or treatment for centronuclear and myotubular myopathies and to supporting families whose lives are affected by these disorders

MTM-CNM Family Connection
A non-profit organization dedicated to connecting families affected by Myotubular Myopathy (MTM) and/or Centronuclear Myopathy (CNM) to resources, research, and relationships within the MTM-CNM community

National Organization for Rare Disorders (NORD)
A non-profit patient advocacy organization dedicated to rare disease awareness and education

NIH Genetics Home Reference
A patient-friendly educational resource provided by the National Library of Medicine

Rare Disease Day
A global organization dedicated to raising awareness about rare diseases and their impact on patients

A non-profit organization dedicated to funding medical research and advocating for patients afflicted with MTM


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