Abstract
We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the ε subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed in hereditary and sporadic inclusion body myositis. Ultrastructural analysis of a muscle specimen obtained at the age of 9 years showed an endplate myopathy typical of the slow-channel syndrome. Twenty years later, a second muscle specimen again showed the endplate myopathy as well numerous nuclear and cytoplasmic tubulofilamentous inclusion bodies. Molecular genetic studies revealed a novel valine to phenylalanine mutation (εV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 753-759 |
| Number of pages | 7 |
| Journal | Neuromuscular Disorders |
| Volume | 15 |
| Issue number | 11 |
| DOIs | |
| State | Published - Nov 2005 |
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Keywords
- Acetylcholine receptor
- Inclusion body myopathy
- Inclusion body myositis
- Slow-channel syndrome
- Tubulofilamentous inclusions
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology
Cite this
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. / Fidzianska, Anna; Ryniewicz, B.; Shen, Xing Ming; Engel, Andrew G.
In: Neuromuscular Disorders, Vol. 15, No. 11, 11.2005, p. 753-759.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit
AU - Fidzianska, Anna
AU - Ryniewicz, B.
AU - Shen, Xing Ming
AU - Engel, Andrew G
PY - 2005/11
Y1 - 2005/11
N2 - We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the ε subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed in hereditary and sporadic inclusion body myositis. Ultrastructural analysis of a muscle specimen obtained at the age of 9 years showed an endplate myopathy typical of the slow-channel syndrome. Twenty years later, a second muscle specimen again showed the endplate myopathy as well numerous nuclear and cytoplasmic tubulofilamentous inclusion bodies. Molecular genetic studies revealed a novel valine to phenylalanine mutation (εV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before.
AB - We report a patient with a slow-channel congenital myasthenic syndrome who carries a novel slow-channel mutation in the ε subunit of the acetylcholine receptor and has tubulofilamentous inclusion bodies, in skeletal muscle of the type observed in hereditary and sporadic inclusion body myositis. Ultrastructural analysis of a muscle specimen obtained at the age of 9 years showed an endplate myopathy typical of the slow-channel syndrome. Twenty years later, a second muscle specimen again showed the endplate myopathy as well numerous nuclear and cytoplasmic tubulofilamentous inclusion bodies. Molecular genetic studies revealed a novel valine to phenylalanine mutation (εV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before.
KW - Acetylcholine receptor
KW - Inclusion body myopathy
KW - Inclusion body myositis
KW - Slow-channel syndrome
KW - Tubulofilamentous inclusions
UR - http://www.scopus.com/inward/record.url?scp=26944489220&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=26944489220&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2005.07.009
DO - 10.1016/j.nmd.2005.07.009
M3 - Article
C2 - 16198106
AN - SCOPUS:26944489220
VL - 15
SP - 753
EP - 759
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 11
ER -