Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance
• Two novel MFN2 compound heterozygous mutations identified. • CMT2A patient phenotypes and inheritance pattern are heterogeneous. • Extensive study of relatives is needed to establish the role of the MFN2 variants.
Gespeichert in:
| Autor*in: |
Geroldi, Alessandro [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2017 |
|---|
| Umfang: |
5 |
|---|
| Übergeordnetes Werk: |
Enthalten in: Sperm competition in golden cuttlefish - Guo, Haoyu ELSEVIER, 2020, official journal of the World Muscle Society, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:27 ; year:2017 ; number:4 ; pages:377-381 ; extent:5 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.nmd.2017.01.010 |
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Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance |
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• Two novel MFN2 compound heterozygous mutations identified. • CMT2A patient phenotypes and inheritance pattern are heterogeneous. • Extensive study of relatives is needed to establish the role of the MFN2 variants. |
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• Two novel MFN2 compound heterozygous mutations identified. • CMT2A patient phenotypes and inheritance pattern are heterogeneous. • Extensive study of relatives is needed to establish the role of the MFN2 variants. |
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• Two novel MFN2 compound heterozygous mutations identified. • CMT2A patient phenotypes and inheritance pattern are heterogeneous. • Extensive study of relatives is needed to establish the role of the MFN2 variants. |
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