Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations

scientific article published on 17 February 2013

Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/0883073812474951
P8608Fatcat IDrelease_vfr7radlz5gfdiayyjlls6ky4a
P698PubMed publication ID23420653

P50authorFilippo Maria SantorelliQ60541206
Paolo GhirriQ117805294
P2093author name stringRoberta Battini
Laura Bartalena
Chiara Fiorillo
Guja Astrea
Jacopo Baldacci
Matteo Giampietri
Rosanna Trovato
P2860cites workMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeQ24561808
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patientsQ28216707
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyQ28238656
Congenital muscular dystrophies: a brief reviewQ28255519
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutationsQ28297242
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiencyQ36333503
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesQ36462720
Dystroglycanopathies: coming into focusQ37852376
The ever-expanding spectrum of congenital muscular dystrophiesQ38029277
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutationsQ39126345
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Q41939145
Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The NetherlandsQ42127428
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophiesQ42524150
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencyQ48595029
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndromeQ48740947
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectcongenital muscular dystrophyQ1321884
congenital disorderQ727096
P304page(s)394-398
P577publication date2013-02-17
P1433published inJournal of Child NeurologyQ6294935
P1476titleElevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations
P478volume29