Abstract
INTRODUCTION: Mutations in the Dok-7 gene (DOK7) underlie a congenital myasthenic syndrome (CMS) with a characteristic limb-girdle (LG) pattern of muscle weakness. Multiple clinical findings and a wide clinical heterogeneity have been identified in this form of CMS. METHODS: We describe here 2 unrelated adult patients who presented with a LG CMS, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*). RESULTS: Although both patients presented with severe proximal weakness consistent with LG myasthenia, one of the patients presented with additional distal muscle involvement in the lower extremities. By contrast, the other patient had severe bulbar and respiratory deficit requiring gastric tube feeding and mechanical ventilatory support for most parts of the day. DISCUSSION: These 2 cases illustrate the lack of phenotype-genotype correlation and the absence of geographic, genetic, and ethnic association in cases of LG CMS caused by DOK7 mutations.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 30-34 |
| Number of pages | 5 |
| Journal | Journal of clinical neuromuscular disease |
| Volume | 21 |
| Issue number | 1 |
| DOIs | |
| State | Published - Sep 1 2019 |
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ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations. / Bissay, Véronique; Maselli, Ricardo A.
In: Journal of clinical neuromuscular disease, Vol. 21, No. 1, 01.09.2019, p. 30-34.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations
AU - Bissay, Véronique
AU - Maselli, Ricardo A.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - INTRODUCTION: Mutations in the Dok-7 gene (DOK7) underlie a congenital myasthenic syndrome (CMS) with a characteristic limb-girdle (LG) pattern of muscle weakness. Multiple clinical findings and a wide clinical heterogeneity have been identified in this form of CMS. METHODS: We describe here 2 unrelated adult patients who presented with a LG CMS, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*). RESULTS: Although both patients presented with severe proximal weakness consistent with LG myasthenia, one of the patients presented with additional distal muscle involvement in the lower extremities. By contrast, the other patient had severe bulbar and respiratory deficit requiring gastric tube feeding and mechanical ventilatory support for most parts of the day. DISCUSSION: These 2 cases illustrate the lack of phenotype-genotype correlation and the absence of geographic, genetic, and ethnic association in cases of LG CMS caused by DOK7 mutations.
AB - INTRODUCTION: Mutations in the Dok-7 gene (DOK7) underlie a congenital myasthenic syndrome (CMS) with a characteristic limb-girdle (LG) pattern of muscle weakness. Multiple clinical findings and a wide clinical heterogeneity have been identified in this form of CMS. METHODS: We describe here 2 unrelated adult patients who presented with a LG CMS, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*). RESULTS: Although both patients presented with severe proximal weakness consistent with LG myasthenia, one of the patients presented with additional distal muscle involvement in the lower extremities. By contrast, the other patient had severe bulbar and respiratory deficit requiring gastric tube feeding and mechanical ventilatory support for most parts of the day. DISCUSSION: These 2 cases illustrate the lack of phenotype-genotype correlation and the absence of geographic, genetic, and ethnic association in cases of LG CMS caused by DOK7 mutations.
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U2 - 10.1097/CND.0000000000000246
DO - 10.1097/CND.0000000000000246
M3 - Article
C2 - 31453852
AN - SCOPUS:85071768223
VL - 21
SP - 30
EP - 34
JO - Journal of Clinical Neuromuscular Disease
JF - Journal of Clinical Neuromuscular Disease
SN - 1522-0443
IS - 1
ER -