title: Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.
abstract: Limb girdle muscular dystrophy type 2 G (LGMD2G) is caused by mutations in the telethonin gene. Only few families were described presenting this disease, and they are mainly Brazilians. Here, we identified one additional case carrying the same common c.157C > T mutation in the telethonin gene but with an atypical histopathological muscle pattern. In a female patient with a long duration of symptoms (46 years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance, nuclear internalization, lobulated fibers, and mitochondrial paracrystalline inclusions. Her first clinical signs were identified at 8 years old, which include tiptoe walking, left lower limb deformity, and frequent falls. Ambulation loss occurred at 41 years old, and now, at 54 years old, she presented pelvic girdle atrophy, winging scapula, foot deformity with incapacity to perform ankle dorsiflexion, and absent tendon reflexes. The presence of nemaline bodies could be a secondary phenomenon, possibly associated with focal Z-line abnormalities of a long-standing disease. However, these new histopathological findings, characteristic of congenital myopathies, expand muscle phenotypic variability of telethoninopathy.
authors.affiliation: Surgical Pathology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
authors.forename: Julia F
authors.initials: JF
authors.lastname: Paim
authors.forename: Ana
authors.initials: A
authors.lastname: Cotta
authors.forename: Antonio P
authors.initials: AP
authors.lastname: Vargas
authors.forename: Monica M
authors.initials: MM
authors.lastname: Navarro
authors.forename: Jaquelin
authors.initials: J
authors.lastname: Valicek
authors.forename: Elmano
authors.initials: E
authors.lastname: Carvalho
authors.forename: Antonio L
authors.initials: AL
authors.lastname: da-Cunha
authors.forename: Estevão
authors.initials: E
authors.lastname: Plentz
authors.forename: Shelida V
authors.initials: SV
authors.lastname: Braz
authors.forename: Reinaldo I
authors.initials: RI
authors.lastname: Takata
authors.forename: Camila F
authors.initials: CF
authors.lastname: Almeida
authors.forename: Mariz
authors.initials: M
authors.lastname: Vainzof
mesh_terms: D002648:Child; D064211:Connectin / Q000235:genetics; D005260:Female; D006801:Humans; D008928:Mitochondria / Q000648:ultrastructure; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012508:Sarcolemma / Q000648:ultrastructure
chemical_list: D064211:Connectin; C577292:TCAP protein, human