Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance

We present a 16‐year‐old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozyg...

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Detalles Bibliográficos
Autores principales: Nabavi Nouri, Maryam, Lamhonwah, Anne‐Marie, Tein, Ingrid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838269/
https://www.ncbi.nlm.nih.gov/pubmed/29531726
http://dx.doi.org/10.1002/ccr3.1233
Descripción
Sumario:We present a 16‐year‐old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in PYGM.

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