Artículos de revistas
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
Fecha
2014-10Registro en:
BMC Clinical Pathology, v.14, art.41, p.1-5, 2014
1472-6890
10.1186/1472-6890-14-41
Autor
Cotta, Ana
Paim, Julia Filardi
da-Cunha-Junior, Antonio Lopes
Xavier Neto, Rafael
Nunes, Simone Vilela
Navarro, Monica Magalhães
Valicek, Jaquelin
Carvalho, Elmano
Yamamoto, Lydia U
Almeida, Camila de Freitas
Braz, Shelida Vasconcelos
Takata, Reinaldo Issao
Vainzof, Mariz
Institución
Resumen
Background: Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular
dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and
this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic
motor unit potentials.
Case presentation: Here we report a 31 years old caucasian male patient with progressive gait disturbance, and
severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness.
Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with
tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle
biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed
vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular
investigation identified the common homozygous c.157C > T in the TCAP gene.
Conclusion: This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed
neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate
diagnosis in these cases is important for genetic counseling and prognosis.