Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. / Yis, Uluc; Uyanik, Gökhan; Heck, Pinar Bambul; Smitka, Martin; Nobel, Hannes; Ebinger, Friedrich; Dirik, Eray; Feng, Lucy; Kurul, Semra H; Brocke, Katja; Unalp, Aycan; Özer, Erdener; Cakmakci, Handan; Sewry, Caroline; Cirak, Sebahattin; Muntoni, Francesco; Hehr, Ute; Morris-Rosendahl, Deborah J.
in: NEUROMUSCULAR DISORD, Jahrgang 21, Nr. 1, 1, 2011, S. 20-30.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
AU - Yis, Uluc
AU - Uyanik, Gökhan
AU - Heck, Pinar Bambul
AU - Smitka, Martin
AU - Nobel, Hannes
AU - Ebinger, Friedrich
AU - Dirik, Eray
AU - Feng, Lucy
AU - Kurul, Semra H
AU - Brocke, Katja
AU - Unalp, Aycan
AU - Özer, Erdener
AU - Cakmakci, Handan
AU - Sewry, Caroline
AU - Cirak, Sebahattin
AU - Muntoni, Francesco
AU - Hehr, Ute
AU - Morris-Rosendahl, Deborah J
PY - 2011
Y1 - 2011
N2 - Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of -dystroglycan ( -DG). Abnormal glycosylation of -DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.
AB - Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of -dystroglycan ( -DG). Abnormal glycosylation of -DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.
KW - Humans
KW - Male
KW - Female
KW - Severity of Illness Index
KW - Child, Preschool
KW - Genotype
KW - Infant
KW - DNA Mutational Analysis
KW - Membrane Proteins genetics
KW - Phenotype
KW - Muscle, Skeletal pathology
KW - Magnetic Resonance Imaging methods
KW - Mutation genetics
KW - Cerebellum pathology
KW - Exons genetics
KW - Introns genetics
KW - Muscular Dystrophies congenital
KW - Neurologic Examination
KW - Walker-Warburg Syndrome genetics
KW - Humans
KW - Male
KW - Female
KW - Severity of Illness Index
KW - Child, Preschool
KW - Genotype
KW - Infant
KW - DNA Mutational Analysis
KW - Membrane Proteins genetics
KW - Phenotype
KW - Muscle, Skeletal pathology
KW - Magnetic Resonance Imaging methods
KW - Mutation genetics
KW - Cerebellum pathology
KW - Exons genetics
KW - Introns genetics
KW - Muscular Dystrophies congenital
KW - Neurologic Examination
KW - Walker-Warburg Syndrome genetics
M3 - SCORING: Zeitschriftenaufsatz
VL - 21
SP - 20
EP - 30
JO - NEUROMUSCULAR DISORD
JF - NEUROMUSCULAR DISORD
SN - 0960-8966
IS - 1
M1 - 1
ER -