Ullrich congenital muscular dystrophy: Clinicopathological features, natural history and pathomechanism(s)

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 3, 2015, Pages 280-287

  Yonekawa, Takahiro ^a,b   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 6; MYOSIN; COL6A1 PROTEIN, HUMAN; COL6A2 PROTEIN, HUMAN;

AERATION; APOPTOSIS; AUTOPHAGY; BRACE; CLINICAL FEATURE; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; COLLAGEN DEFECT; CONSERVATIVE TREATMENT; DIFFERENTIAL DIAGNOSIS; EHLERS DANLOS SYNDROME; EXON SKIPPING; EXTRACELLULAR MATRIX; FIBROSING ALVEOLITIS; FLEXOR MUSCLE; FOOT ORTHOSIS; FORCED VITAL CAPACITY; FRAMESHIFT MUTATION; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; JOINT CONTRACTURE; JOINT LAXITY; KELOID; MESENCHYME CELL; MISSENSE MUTATION; MUSCLE EYE BRAIN DISEASE; MUSCLE RIGIDITY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; MYOPATHY; NONHUMAN; NONINVASIVE VENTILATION; NONSENSE MUTATION; ONSET AGE; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PREVALENCE; RESPIRATORY FAILURE; REVIEW; SCOLIOSIS; SPINAL MUSCULAR ATROPHY; STOP CODON; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; WALKER; WALKER WARBURG SYNDROME; ADOLESCENT; CHILD; DISEASE COURSE; DOMINANT GENE; GENETICS; INFANT; MUSCULAR DYSTROPHIES; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; RECESSIVE GENE; SCLEROSIS; SKELETAL MUSCLE; WALKING DIFFICULTY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VI; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MOBILITY LIMITATION; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; NEUROLOGIC EXAMINATION; PHENOTYPE; SCLEROSIS;

EID: 84923121580     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-307052     Document Type: Review

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