TY - JOUR
T1 - Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis
AU - Cantero, Diana
AU - Hernández-Laín, Aurelio
AU - Martínez, Juan Francisco Gonzalo
AU - Pérez, María Rabasa
AU - Ruano, Yolanda
AU - Lleixà, Cinta
AU - Gallardo, Eduard
AU - Domínguez-González, Cristina
PY - 2018/11/15
Y1 - 2018/11/15
N2 - © 2018 Elsevier B.V. Introduction: Sarcoglycanopathies (LGMD 2C–2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12–16 years. Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic. Results: Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of α-sarcoglicanopathy. Discussion: Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.
AB - © 2018 Elsevier B.V. Introduction: Sarcoglycanopathies (LGMD 2C–2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12–16 years. Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic. Results: Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of α-sarcoglicanopathy. Discussion: Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.
KW - Immunohistochemistry
KW - Limb-girdle muscular dystrophies
KW - Next generation sequencing
KW - Sarcoglicanopathies
KW - SGCA
KW - Western-blot
U2 - 10.1016/j.jns.2018.08.026
DO - 10.1016/j.jns.2018.08.026
M3 - Article
C2 - 30218921
VL - 394
SP - 63
EP - 67
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
ER -