TY - JOUR
T1 - Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis
AU - Dabby, Ron
AU - Sadeh, Menachem
AU - Hilton-Jones, David
AU - Plotz, Paul
AU - Hackman, Peter
AU - Vihola, Anna
AU - Udd, Bjarne
AU - Leshinsky-Silver, Esther
N1 - Publisher Copyright:
© 2015 Elsevier B.V.
PY - 2015/4/15
Y1 - 2015/4/15
N2 - Rarely, inflammation can be present in genetic myopathies, such as dysferlinopathies, facioscapulohumeral muscular dystrophy and GNE-myopathy (hereditary inclusion body myopathy). This may lead to erroneous initial diagnosis and unnecessary therapy which bear serious side effects. We report on an unusual case of mutations in the TTN gene presenting with inflammatory infiltrates in the muscle biopsy. Only after intensive immune-modulating therapies failed, a genetic myopathy was considered. Exome sequencing and search for mutated muscle protein-encoding genes disclosed compound heterozygous mutations in TTN: K26320T and A6135G. The parents carry one each of the mutations. Titinopathy could be considered also in patients presenting with inflammatory infiltrates resistant to therapy.
AB - Rarely, inflammation can be present in genetic myopathies, such as dysferlinopathies, facioscapulohumeral muscular dystrophy and GNE-myopathy (hereditary inclusion body myopathy). This may lead to erroneous initial diagnosis and unnecessary therapy which bear serious side effects. We report on an unusual case of mutations in the TTN gene presenting with inflammatory infiltrates in the muscle biopsy. Only after intensive immune-modulating therapies failed, a genetic myopathy was considered. Exome sequencing and search for mutated muscle protein-encoding genes disclosed compound heterozygous mutations in TTN: K26320T and A6135G. The parents carry one each of the mutations. Titinopathy could be considered also in patients presenting with inflammatory infiltrates resistant to therapy.
KW - Keywords Titin LGMD2J Muscular dystrophy Inflammatory myopathy
UR - http://www.scopus.com/inward/record.url?scp=84926407754&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2015.03.001
DO - 10.1016/j.jns.2015.03.001
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AN - SCOPUS:84926407754
SN - 0022-510X
VL - 351
SP - 120
EP - 123
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1-2
ER -