title: Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Ana
authors.initials: A
authors.lastname: Cotta
authors.affiliation: Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Julia Filardi
authors.initials: JF
authors.lastname: Paim
authors.affiliation: Department of Radiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Antonio Lopes
authors.initials: AL
authors.lastname: da-Cunha-Junior
authors.affiliation: Department of Neurology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Rafael Xavier
authors.initials: RX
authors.lastname: Neto
authors.affiliation: Department of Neurology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Simone Vilela
authors.initials: SV
authors.lastname: Nunes
authors.affiliation: Departments of Pediatrics and Genetics, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Monica Magalhaes
authors.initials: MM
authors.lastname: Navarro
authors.affiliation: Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Jaquelin
authors.initials: J
authors.lastname: Valicek
authors.affiliation: Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Elmano
authors.initials: E
authors.lastname: Carvalho
authors.affiliation: Human Genome Research Center, University of São Paulo, São Paulo, Brazil.
authors.forename: Lydia U
authors.initials: LU
authors.lastname: Yamamoto
authors.affiliation: Human Genome Research Center, University of São Paulo, São Paulo, Brazil.
authors.forename: Camila F
authors.initials: CF
authors.lastname: Almeida
authors.affiliation: Department of Electron Microscopy, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil.
authors.forename: Shelida Vasconcelos
authors.initials: SV
authors.lastname: Braz
authors.affiliation: Department of Molecular Biology, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil.
authors.forename: Reinaldo Issao
authors.initials: RI
authors.lastname: Takata
authors.affiliation: Human Genome Research Center, University of São Paulo, São Paulo, Brazil.
authors.forename: Mariz
authors.initials: M
authors.lastname: Vainzof
keywords: Computed tomography; Limb girdle muscular dystrophy; Neurogenic; Rimmed vacuoles; Telethonin