BIOMAT Database Logo BIOMAT Database Logo

Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy. 2000

C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Institut für Neuropathologie der Rheinisch-Westfälischen Technischen Hochschule, Pauwelsstrasse 30, D-52074 Aachen, Germany.

A man was identified with two X-chromosomal neuromuscular disorders, X-linked Charcot-Marie-Tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002607 Charcot-Marie-Tooth Disease A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343) Atrophy, Muscular, Peroneal,HMSN Type I,HMSN Type II,Hereditary Motor and Sensory-Neuropathy Type II,Hereditary Motor, and Sensory Neuropathy Type I,Muscular Atrophy, Peroneal,Peroneal Muscular Atrophy,Roussy-Levy Syndrome,Charcot-Marie Disease,Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A,Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B,Charcot-Marie-Tooth Disease, Demyelinating, Type 1A,Charcot-Marie-Tooth Disease, Demyelinating, Type 1B,Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy,Charcot-Marie-Tooth Disease, Type 1A,Charcot-Marie-Tooth Disease, Type 1B,Charcot-Marie-Tooth Disease, Type I,Charcot-Marie-Tooth Disease, Type IA,Charcot-Marie-Tooth Disease, Type IB,Charcot-Marie-Tooth Disease, Type II,Charcot-Marie-Tooth Hereditary Neuropathy,Charcot-Marie-Tooth Neuropathy, Type 1A,Charcot-Marie-Tooth Neuropathy, Type 1B,Charcot-Marie-Tooth Syndrome,HMN Distal Type I,HMSN 1A,HMSN 1B,HMSN I,HMSN IA,HMSN IB,HMSN II,HMSN1A,HMSN1B,Hereditary Areflexic Dystasia,Hereditary Motor And Sensory Neuropathy IB,Hereditary Motor and Sensory Neuropathy 1A,Hereditary Motor and Sensory Neuropathy 1B,Hereditary Motor and Sensory Neuropathy IA,Hereditary Type I Motor and Sensory Neuropathy,Neuropathy, Type I Hereditary Motor and Sensory,Neuropathy, Type II Hereditary Motor and Sensory,Roussy Levy Hereditary Areflexic Dystasia,Roussy-Levy Disease,Roussy-Levy Hereditary Areflexic Dystasia,Areflexic Dystasia, Hereditary,Areflexic Dystasias, Hereditary,Atrophies, Peroneal Muscular,Atrophy, Peroneal Muscular,Charcot Marie Disease,Charcot Marie Tooth Disease,Charcot Marie Tooth Disease, Type 1A,Charcot Marie Tooth Disease, Type 1B,Charcot Marie Tooth Disease, Type I,Charcot Marie Tooth Disease, Type IA,Charcot Marie Tooth Disease, Type IB,Charcot Marie Tooth Disease, Type II,Charcot Marie Tooth Hereditary Neuropathy,Charcot Marie Tooth Neuropathy, Type 1A,Charcot Marie Tooth Neuropathy, Type 1B,Charcot Marie Tooth Syndrome,Dystasia, Hereditary Areflexic,Dystasias, Hereditary Areflexic,Hereditary Areflexic Dystasias,Hereditary Motor and Sensory Neuropathy Type II,Hereditary Neuropathy, Charcot-Marie-Tooth,Muscular Atrophies, Peroneal,Peroneal Muscular Atrophies,Roussy Levy Disease,Roussy Levy Syndrome,Syndrome, Charcot-Marie-Tooth,Syndrome, Roussy-Levy
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000097002 Gap Junction beta-1 Protein A GAP JUNCTION beta subunit containing four transmembrane domains expressed in myelinating SCHWANN CELLS and is localized to peripheral MYELIN (e.g., noncompact myelin in the paranode and Schmitt-Lanterman incisures). Mutations in the human gene GJB1 are associated with X-linked CHARCOT-MARIE-TOOTH DISEASE type 1 (CMT1X). Connexin 32,Connexin 32 Protein,Cx32 Protein,GJB1 Protein,Gap Junction B1,Gap Junction beta1 Protein,Gap Junction beta 1 Protein,Protein, Connexin 32,Protein, Cx32,Protein, GJB1
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes

Related Publications

C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.
October 2010, Neurogenetics,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy.
October 2007, European journal of neurology,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
June 1991, American journal of human genetics,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.
February 1994, American journal of human genetics,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
X-linked Charcot-Marie-Tooth disease.
December 2012, Journal of the peripheral nervous system : JPNS,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.
March 1992, Muscle & nerve,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy.
April 1992, Neurology,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families.
December 1993, Neurology,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
The Becker type X-linked muscular dystrophy.
December 1976, British medical journal,
C Bergmann, and J Senderek, and B Hermanns, and A Jauch, and B Janssen, and J M Schröder, and D Karch
A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
February 2004, Journal of neurology,
Copied contents to your clipboard!