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Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping. [PDF]

open access: yesCurr Issues Mol Biol
Villafan-Bernal JR   +11 more
europepmc   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

open access: yesAnn Neurol
Michael E   +5 more
europepmc   +1 more source

Adult-Onset PLEC-Related Congenital Myasthenic Syndrome-Myopathy Overlap with Upper Limb Predominant Weakness

open access: yes
Jose A   +8 more
europepmc   +1 more source
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Congenital myopathies

Seminars in Pediatric Neurology, 1991
About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
openaire   +3 more sources

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