UNASSIGNED: We aimed to characterize genotype-phenotype correlations and establish baseline clinical data for @entity1897 caused by mutations in the @entity32852 ( @entity32852 ) gene. @entity32852 mutations are the second leading cause of @entity5108 . Recent research makes clinical trials for @entity1 with @entity32852 mutations a realistic possibility. However, the clinical severity varies with different mutations and natural history data on progression is sparse. We present cross-sectional data to begin to define the phenotypic spectrum and clinical baseline of @entity1 with these mutations. A cohort of @entity1 with @entity32852 gene mutations was identified in 13 centres of the @entity74 Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC) between 2009 and 2012 and at Wayne State University between 1996 and 2009. @entity1 phenotypes were quantified by the @entity16 score version 1 or 2 and the @entity5108 paediatric scale outcome instruments. Genetic testing was performed in all @entity1 and/or in first- or second-degree relatives to document mutation in @entity32852 gene indicating diagnosis of @entity5108 . There were 103 @entity1 from 71 families with 47 different @entity32852 mutations with a mean age of 40 years (range 3-84 years). @entity1 and mutations were separated into infantile, childhood and adult-onset groups. The infantile onset group had higher @entity16 score version 1 or 2 and slower nerve conductions than the other groups, and severity increased with age. Twenty-three @entity1 had no family history of @entity5108 . Sixty-one @entity1 wore foot/ankle orthoses, 19 required walking assistance or support, and 10 required wheelchairs. There was @entity393 in 21 and @entity1635 in 17. Forty-two @entity1 did not begin walking until after 15 months of age. Half of the infantile onset @entity1 then required ambulation aids or wheelchairs for ambulation. Our results demonstrate that virtually all @entity32852 mutations are associated with specific phenotypes. Early onset (infantile and childhood) phenotypes likely represent developmentally impaired myelination, whereas the adult-onset phenotype reflects @entity528 without antecedent @entity17 . Data from this cohort of @entity1 will provide the baseline data necessary for clinical trials of @entity1 with @entity5108 caused by @entity32852 gene mutations.

Genotype-phenotype characteristics and baseline natural history of heritable XXXX caused by mutations in the @entity32852 gene.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'Patient'] @entity17 :: ('MESH:D003711', 'Disease') :: ['demyelination'] @entity5108 :: ('MESH:D002607', 'Disease') :: ['Charcot-Marie-Tooth disease type 1B', 'Charcot-Marie-Tooth disease type 1', 'Charcot-Marie-Tooth disease'] @entity16 :: ('MESH:D009422', 'Disease') :: ['Charcot-Marie-Tooth disease neuropathy'] @entity1635 :: ('MESH:D012600', 'Disease') :: ['scoliosis'] @entity1897 :: ('MESH:D010523', 'Disease') :: ['peripheral neuropathies'] @entity74 :: ('MESH:D030342', 'Disease') :: ['Inherited Neuropathies'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss'] @entity528 :: ('MESH:D009410', 'Disease') :: ['axonal degeneration'] @entity32852 :: ('4359', 'Gene') :: ['myelin protein zero', 'MPZ']
@entity16 :: (MESH:D009422,Disease) :: ['neuropathies']
