Long-term survival in a patient with muscle–eye–brain disease

Neurological Sciences

Volumn 36, Issue 11, 2015, Pages 2147-2149

  Falsaperla, Raffaele ^a   Giunta, Leandra ^a   Lubrano, Riccardo ^b   Foti, Rosario ^a   Vitaliti, Giovanna ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Childhood; Congenital muscular dystrophy (CMD); Long term survival; MRI; Muscle eye brain

Indexed keywords

O MANNOSYL BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE PROTEIN; PROTEIN; UNCLASSIFIED DRUG; N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE;

ADOLESCENT; ANTERIOR EYE CHAMBER DISEASE; ANTHROPOMETRIC PARAMETERS; APGAR SCORE; BIRTH WEIGHT; BLOOD ANALYSIS; BODY HEIGHT; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CEREBELLUM CORTEX; CESAREAN SECTION; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DRUG RESISTANT EPILEPSY; DYSPHAGIA; ELECTROMYOGRAM; EXON; FAMILY HISTORY; FEMALE; FINGER; GENE MUTATION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; IMMUNOHISTOCHEMISTRY; JOINT CONTRACTURE; LETTER; LONG TERM SURVIVAL; MACROCEPHALY; MEDICAL HISTORY; MICROCEPHALY; MICROGYRIA; MICROPHTHALMIA; MOTOR DEVELOPMENT; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE NECROSIS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; MYOPIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PREMATURE FETUS MEMBRANE RUPTURE; PSYCHOMOTOR DEVELOPMENT; RETINA MALFORMATION; SPEECH DELAY; SUCKING; UPPER RESPIRATORY TRACT INFECTION; WRIST; BRAIN; DISEASE COURSE; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX; WALKER-WARBURG SYNDROME;

ADOLESCENT; BRAIN; DISEASE PROGRESSION; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; N-ACETYLGLUCOSAMINYLTRANSFERASES; SEVERITY OF ILLNESS INDEX; WALKER-WARBURG SYNDROME;

EID: 84945454720     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-015-2321-z     Document Type: Letter

References (6)

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