Medical Complications In Long-Term Survivors With X-Linked Myotubular Myopathy

Medical complications in long-term survivors with X …

https://pubmed.ncbi.nlm.nih.gov/9931531/

This study was undertaken to determine the outcome in long-term survivors (>1 year of age) with MTM1. Methods: Clinical data were obtained on 55 male subjects from 49 independent North American families for which a mutation was identified in the X-linked …

Medical complications in long-term survivors with X …

https://www.sciencedirect.com/science/article/pii/S0022347699704178

Our report has documented several unusual complications in significant numbers of patients with X-linked MTM. Several complications including scoliosis, …

Medical complications in long-term survivors with X …

https://www.sciencedirect.com/science/article/abs/pii/S0022347699704178

The typical non-muscle complications of long-surviving X-linked myotubular myopathy (XLMTM) include scoliosis, head deformity, macrocephaly, …

X-Linked Myotubular Myopathy - National Organization …

https://rarediseases.org/rare-diseases/x-linked-myotubular-myopathy/

Medical complications in long-term survivors with X …

https://reference.medscape.com/medline/abstract/9931531

Several patients have had other medical problems not previously reported to be associated with MTM1. These include pyloric stenosis (4 male subjects from 3 families), …

Hepatobiliary disease in XLMTM: a common comorbidity …

https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-02055-1

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically …

Entry - #310400 - MYOPATHY, CENTRONUCLEAR, X …

https://www.omim.org/entry/310400

Medical complications observed in some long-term survivors included pyloric stenosis, spherocytosis, gallstones, kidney stones or nephrocalcinosis, a vitamin K-responsive …

Medical complications in long-term survivors with X-linked …

http://www.joshuafrase.org/uploads/1999,%20Herman,%20Medical%20complications%20in%20long-term%20survivors%20with%20XLMTM.pdf

Objectives: X-linked myotubular myopathy (MTM1) is a rare developmen-tal disorder of skeletal muscle characterized by the presence of central nuclei in biopsy specimens from …

Medical complications in long-term survivors with X …

https://www.semanticscholar.org/paper/Medical-complications-in-long-term-survivors-with-Herman-Finegold/a953f3ea0734942f51f68148bc9147c7d487f4fc

Medical complications in long-term survivors with X-linked myotubular myopathy. @article{Herman1999MedicalCI, title={Medical complications in long-term …

Medical complications in long-term survivors with X …

https://www.wikidata.org/wiki/Q52179869

Medical complications in long-term survivors with X-linked myotubular myopathy. (Q52179869) From Wikidata. ... Description Also known as; English: Medical …