Volume 53, Issue 6 pp. 981-983

Case of the Month

Next generation sequencing detection of late onset pompe disease

Corrado Angelini MD,

Corresponding Author

Corrado Angelini MD

Neuromuscular Center, Fondazione San Camillo Hospital IRCCS, via Alberoni 70, 30124 Lido Venice, Italy

Correspondence to: C. Angelini; e-mail: [email protected]Search for more papers by this author

Marco Savarese PhD,

Marco Savarese PhD

Department of Biochemistry, Biophysics and General Pathology, II^nd University of Naples

Telethon Institute of Genetics and Medicine, Naples

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Marina Fanin PhD,

Marina Fanin PhD

Department of Neurosciences, University of Padova, Italy

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Vincenzo Nigro MD, PhD,

Vincenzo Nigro MD, PhD

Department of Biochemistry, Biophysics and General Pathology, II^nd University of Naples

Telethon Institute of Genetics and Medicine, Naples

Search for more papers by this author

Corrado Angelini MD,

Corresponding Author

Corrado Angelini MD

Neuromuscular Center, Fondazione San Camillo Hospital IRCCS, via Alberoni 70, 30124 Lido Venice, Italy

Correspondence to: C. Angelini; e-mail: [email protected]Search for more papers by this author

Marco Savarese PhD,

Marco Savarese PhD

Department of Biochemistry, Biophysics and General Pathology, II^nd University of Naples

Telethon Institute of Genetics and Medicine, Naples

Search for more papers by this author

Marina Fanin PhD,

Marina Fanin PhD

Department of Neurosciences, University of Padova, Italy

Search for more papers by this author

Vincenzo Nigro MD, PhD,

Vincenzo Nigro MD, PhD

Department of Biochemistry, Biophysics and General Pathology, II^nd University of Naples

Telethon Institute of Genetics and Medicine, Naples

Search for more papers by this author

First published: 21 January 2016

https://doi.org/10.1002/mus.25042

Citations: 12

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ABSTRACT

Introduction

We report a patient in whom the diagnosis of a treatable disease was delayed for 30 years.

Methods

Recent discoveries of next generation sequencing (NGS) have allowed us to reconsider the diagnosis of limb girdle muscular dystrophy (LGMD) cases of unknown etiology.

Results

A 36-year-old man appeared to have LGMD with onset in shoulder girdle muscles, but all sarcolemmal and cytoskeletal proteins tested by immunoblotting and immunohistochemistry gave normal results. He developed respiratory insufficiency and became dependent on overnight ventilation at age 44. By NGS technology, 2 mutations in the GAA gene (intervening sequence 1 and a missense mutation in exon 11) allowed us to make a definite diagnosis of glycogenosis type II (Pompe disease) and start enzyme replacement therapy at age 71.

Conclusions

Mild nondystrophic features on muscle biopsy and respiratory muscle involvement should suggest late-onset Pompe disease in patients with an unclassified LGMD phenotype. NGS may help make the diagnosis. Muscle Nerve 53: 981–983, 2016

REFERENCES

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Volume53, Issue6

June 2016

Pages 981-983

Next generation sequencing detection of late onset pompe disease

ABSTRACT

Introduction

Methods

Results

Conclusions

REFERENCES

Citing Literature

References

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Next generation sequencing detection of late onset pompe disease

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Introduction

Methods

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Citing Literature

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