POMGNT1-related limb-girdle muscular dystrophy R15

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Synonyms: Autosomal recessive limb-girdle muscular dystrophy type 2O | LGMD type 2O | LGMD2O | Limb-girdle muscular dystrophy type 2O | POMGNT1-related LGMD R15

A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck hip girdle and shoulder abductors) hypertrophy in the calves and quadriceps ankle contractures and myopia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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POMGNT1-related limb-girdle muscular dystrophy R15?

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Advocacy Organizations

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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