A Pedigree of Sex-Linked Recessive Peroneal Atrophy

Erwin, W. G.

doi:10.1093/oxfordjournals.jhered.a105311

Cited by 21 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In CMTX kindreds. there is no male-to-male transmission, and males are affected before their twenties (Allan, 1939;Erwin, 1944;Woratz, 1964;de Weerdt, 1978;Fryns and Van den Berghe, 1980;Phillips et aL, 1985;Rozear et aL, 1987;Hahn et aL, 1990;Skre, 1974). In some studies, obligate female carriers were not reported to be affected, hence these kindreds were considered to have X-linked recessive CMT.…”

Section: Charcot-marie-tooth Diseasementioning

confidence: 99%

Cell Biology and Pathology of Myelin

1997

View full text Add to dashboard Cite

Cell biology and pathology of myelln evolving biological concepts and therapeutic approaches I edited by Bernhard H.J. Juurlink •. ,. let a1.l.p. cm. --(Alschul symposia ser ies ; v. 4) Includes bibllographical references and index. No part of this book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise, without written permission from the Publisher v vi Preface dresses the cellular and molecular control over a glial cell's expression of the myelinating phenotype. The final part of the volume discusses evolving therapeutic approaches in the treatment of demyelinating/dysmyelinating diseases and for promotion of functional recovery after spinal cord injury. After reading the chapters in this volume, the reader will agree that over the last decade we have come a long way in unraveling the cell-cell interactions that govern gene expression involved in myelination and axonal growth. Understanding the mechanisms that govern these cell-cell interactions is opening the path to the development of rational and effective neurotherapies in the area of demyelinating/dysmyelinating diseases and spinal cord injuries.The symposium, using seed monies from the Altschul Trust Fund, could not have been held without the generous financial support of the following funding agencies and corporations

show abstract

Section: Charcot-marie-tooth Diseasementioning

confidence: 99%

Cell Biology and Pathology of Myelin

1997

View full text Add to dashboard Cite

show abstract

“…Several reports hint at the possibility of X-linked recessive inheritance in HMSN, but the entity is not clearly defined and clinical descriptions have varied (67)(68)(69)(70)(71). In some reported families, the neuropathy was associated with mental retardation (70,71).…”

Section: X-linked Recessive Hmsnmentioning

confidence: 99%

Hereditary Motor and Sensory Neuropathy: HMSN Type II (Neuronal Type) and X‐linked HMSN

Hahn¹

1993

Brain Pathology

View full text Add to dashboard Cite

The neuronal forms of hereditary motor and sensory neuropathy (HMSN) are genetically heterogeneous with observed autosomal dominant, autosomal recessive and X-linked dominant inheritance. All three forms are characterized by degeneration of select populations of motor and sensory neurons with accompanying atrophy and degeneration of their axons. Large calibre myelinated fibres are predominantly affected and fibre degeneration and fibre loss progresses from distally to proximally. Attempts of regeneration are noted in all except the severe childhood form. The clinical picture is that of peroneal and distal leg muscle wasting and weakness, distal sensory loss and areflexia. Hand muscles may be severely affected in the autosomal recessive and X-linked dominant forms. Motor and sensory nerve conduction velocities are only moderately slowed and evoked maximum compound motor and sensory amplitudes are reduced according to the degree of fibre loss. The gene locus remains unknown in both the autosomal dominant and autosomal recessive types. For the X-linked dominant HMSN, the gene locus has been mapped closely by linkage analysis to DNA loci in the pericentromeric region of the X-chromosome.

show abstract

A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

et al. 1985

View full text Add to dashboard Cite

Six men from three generations of one family had manifestations of a possible new syndrome. All had congenital contractures of the feet at birth, a slowly progressive predominantly distal muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mild mental retardation. The pedigree is compatible with X-linked recessive inheritance with no detectable manifestations in the obligate carriers. Linkage analysis excludes close linkage with the Xg locus and a polymorphic DNA sequence from the long arm of the X chromosome (DXS17).

show abstract

A Pedigree of Sex-Linked Recessive Peroneal Atrophy

Cited by 21 publications

References 0 publications

Cell Biology and Pathology of Myelin

Cell Biology and Pathology of Myelin

Hereditary Motor and Sensory Neuropathy: HMSN Type II (Neuronal Type) and X‐linked HMSN

A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

Contact Info

Product

Resources

About