Dolor muscular en una mujer de 46 años

  1. Villa-Martínez, Sofía de la 1
  2. San Millán-Tejado, Beatriz 2
  3. Araoz-Sánchez-Dopico, Patricia 1
  4. Vaqueiro-Rodríguez, Inés 1
  5. García-Martín, MJ 1
  1. 1 Servicio de Medicina Interna, Hospital Comarcal Valdeorras, Orense, España
  2. 2 Servicio de Anatomía Patológica, Hospital Álvaro Cunquiero, Vigo (Pontevedra), España
Revista:
Revista Española de Casos Clínicos en Medicina Interna (RECCMI)

ISSN: 2530-0792

Ano de publicación: 2017

Título do exemplar: Spanish Journal of Case Records in Internal Medicine

Volume: 2

Número: 1

Páxinas: 30-33

Tipo: Artigo

DOI: 10.32818/RECCMI.A2N1A11 DIALNET GOOGLE SCHOLAR lock_openAcceso aberto editor

Outras publicacións en: Revista Española de Casos Clínicos en Medicina Interna (RECCMI)

Resumo

A 46-year-old woman presented with weakness, muscular pain and persistent elevations of creatinine kinase. The analysis (including hormones, autoimmunity and serology), magnetic resonance and an electromyogram did not provide a conclusive diagnosis. However, after performing a muscle biopsy, we diagnosed a glycogen storage disease type V (McArdle disease). Glycogenosis occurs in a group of metabolic and genetic diseases characterized by a disorder in the catabolism of glycogen. The McArdle disease is defined by an absence of glycogen phosphorylase, an enzyme that catalyzes the conversion of glycogen to glucose-1-phosphate in muscle tissue.

Referencias bibliográficas

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Fonte de datos: Dialnet